{"id":"https://openalex.org/W2050602140","doi":"https://doi.org/10.1155/2010/967535","title":"Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome","display_name":"Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome","publication_year":2010,"publication_date":"2010-01-01","ids":{"openalex":"https://openalex.org/W2050602140","doi":"https://doi.org/10.1155/2010/967535","mag":"2050602140","pmid":"https://pubmed.ncbi.nlm.nih.gov/20368792","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2846365"},"language":"en","primary_location":{"id":"doi:10.1155/2010/967535","doi":"https://doi.org/10.1155/2010/967535","is_oa":true,"landing_page_url":"https://doi.org/10.1155/2010/967535","pdf_url":"https://downloads.hindawi.com/journals/crim/2010/967535.pdf","source":{"id":"https://openalex.org/S18728686","display_name":"Case Reports in Medicine","issn_l":"1687-9627","issn":["1687-9627","1687-9635","2090-6927","2090-6935"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","poland-20","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://downloads.hindawi.com/journals/crim/2010/967535.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5012748077","display_name":"Kerry A. Morrone","orcid":"https://orcid.org/0000-0003-2933-7961","observed_orcids":["https://orcid.org/0000-0003-2933-7961"]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]},{"id":"https://openalex.org/I4210135976","display_name":"Children's Hospital at Montefiore","ror":"https://ror.org/03n0fp725","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210135976"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kerry Morrone","raw_affiliation_strings":["Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA","institution_ids":["https://openalex.org/I129975664","https://openalex.org/I4210135976"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101993691","display_name":"Yanhua Wang","orcid":"https://orcid.org/0000-0002-7946-2843","observed_orcids":["https://orcid.org/0000-0002-7946-2843"]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]},{"id":"https://openalex.org/I1335289525","display_name":"Montefiore Medical Center","ror":"https://ror.org/044ntvm43","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1335289525","https://openalex.org/I19772626"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yanhua Wang","raw_affiliation_strings":["Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY 10467, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY 10467, USA","institution_ids":["https://openalex.org/I129975664","https://openalex.org/I1335289525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086550680","display_name":"Marjan Huizing","orcid":"https://orcid.org/0000-0002-9375-9539","observed_orcids":["https://orcid.org/0000-0002-9375-9539"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marjan Huizing","raw_affiliation_strings":["Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20814, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20814, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022513437","display_name":"Elie Sutton","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]},{"id":"https://openalex.org/I4210135976","display_name":"Children's Hospital at Montefiore","ror":"https://ror.org/03n0fp725","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210135976"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Elie Sutton","raw_affiliation_strings":["Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA","institution_ids":["https://openalex.org/I129975664","https://openalex.org/I4210135976"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108088090","display_name":"James G. White","orcid":"https://orcid.org/0000-0001-5893-1121","observed_orcids":["https://orcid.org/0000-0001-5893-1121"]},"institutions":[{"id":"https://openalex.org/I130238516","display_name":"University of Minnesota","ror":"https://ror.org/017zqws13","country_code":"US","type":"education","lineage":["https://openalex.org/I130238516"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"James G. White","raw_affiliation_strings":["Department of Laboratory Medicine, University of Minnesota School of Medicine, Minneapolis, MN 55455, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Laboratory Medicine, University of Minnesota School of Medicine, Minneapolis, MN 55455, USA","institution_ids":["https://openalex.org/I130238516"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082442398","display_name":"William Allen Gahl","orcid":"https://orcid.org/0000-0002-2494-6752","observed_orcids":["https://orcid.org/0000-0002-2494-6752"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William A. Gahl","raw_affiliation_strings":["Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20814, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20814, USA","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5102942933","display_name":"Karen M. Moody","orcid":"https://orcid.org/0000-0003-4168-2864","observed_orcids":["https://orcid.org/0000-0003-4168-2864"]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]},{"id":"https://openalex.org/I4210135976","display_name":"Children's Hospital at Montefiore","ror":"https://ror.org/03n0fp725","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210135976"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Karen Moody","raw_affiliation_strings":["Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY 10467, USA","institution_ids":["https://openalex.org/I129975664","https://openalex.org/I4210135976"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5102942933"],"corresponding_institution_ids":["https://openalex.org/I129975664","https://openalex.org/I4210135976"],"apc_list":{"value":790,"currency":"USD","value_usd":790},"apc_paid":{"value":790,"currency":"USD","value_usd":790},"fwci":0.5208,"has_fulltext":true,"cited_by_count":11,"citation_normalized_percentile":{"value":0.63443291,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"2010","issue":null,"first_page":"1","last_page":"4"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11616","display_name":"Autoimmune and Inflammatory Disorders Research","score":0.002099999925121665,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12919","display_name":"Blood disorders and treatments","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/chediak-higashi-syndrome","display_name":"Chediak-Higashi syndrome","score":1.0},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.8529999852180481},{"id":"https://openalex.org/keywords/hemophagocytic-lymphohistiocytosis","display_name":"hemophagocytic lymphohistiocytosis","score":0.9179999828338623},{"id":"https://openalex.org/keywords/accelerated-phase","display_name":"accelerated phase","score":0.6579999923706055},{"id":"https://openalex.org/keywords/oculocutaneous-albinism","display_name":"oculocutaneous albinism","score":0.8920000195503235},{"id":"https://openalex.org/keywords/immunodeficiency","display_name":"immunodeficiency","score":0.7770000100135803},{"id":"https://openalex.org/keywords/coagulopathy","display_name":"coagulopathy","score":0.8330000042915344},{"id":"https://openalex.org/keywords/lysosome-function","display_name":"lysosomal function","score":0.5600000023841858},{"id":"https://openalex.org/keywords/african-american-children","display_name":"African American children","score":0.6769999861717224},{"id":"https://openalex.org/keywords/pancytopenia","display_name":"pancytopenia","score":0.7310000061988831},{"id":"https://openalex.org/keywords/hepatosplenomegaly","display_name":"hepatosplenomegaly","score":0.8029999732971191},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8650000095367432}],"concepts":[{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.604008674621582},{"id":"https://openalex.org/C2779440204","wikidata":"https://www.wikidata.org/wiki/Q1260186","display_name":"Hepatosplenomegaly","level":3,"score":0.5817236304283142},{"id":"https://openalex.org/C2776070026","wikidata":"https://www.wikidata.org/wiki/Q934034","display_name":"Ch\u00e9diak\u2013Higashi syndrome","level":2,"score":0.5460817813873291},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.4196939468383789},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.41863518953323364},{"id":"https://openalex.org/C2779382419","wikidata":"https://www.wikidata.org/wiki/Q1757427","display_name":"Pancytopenia","level":3,"score":0.4115581810474396},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4022318124771118},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.38843202590942383},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.33276569843292236},{"id":"https://openalex.org/C2780007613","wikidata":"https://www.wikidata.org/wiki/Q546523","display_name":"Bone marrow","level":2,"score":0.3212892413139343},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.27580732107162476},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.26688671112060547},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.0}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.1155/2010/967535","doi":"https://doi.org/10.1155/2010/967535","is_oa":true,"landing_page_url":"https://doi.org/10.1155/2010/967535","pdf_url":"https://downloads.hindawi.com/journals/crim/2010/967535.pdf","source":{"id":"https://openalex.org/S18728686","display_name":"Case Reports in Medicine","issn_l":"1687-9627","issn":["1687-9627","1687-9635","2090-6927","2090-6935"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","poland-20","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Medicine","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2846365","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2846365","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Rep Med","raw_type":"Text"},{"id":"pmid:20368792","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20368792","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case reports in medicine","raw_type":"Case Reports"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.354.1995","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.354.1995","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/70/d0/Case_Report_Med_2010_Mar_24_2010_967535.tar.gz","raw_type":"text"},{"id":"pmh:oai:doaj.org/article:1abfc6e5112046679c786e8c410d4c46","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/1abfc6e5112046679c786e8c410d4c46","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Case Reports in Medicine, Vol 2010 (2010)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1155/2010/967535","doi":"https://doi.org/10.1155/2010/967535","is_oa":true,"landing_page_url":"https://doi.org/10.1155/2010/967535","pdf_url":"https://downloads.hindawi.com/journals/crim/2010/967535.pdf","source":{"id":"https://openalex.org/S18728686","display_name":"Case Reports in Medicine","issn_l":"1687-9627","issn":["1687-9627","1687-9635","2090-6927","2090-6935"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","poland-20","russia-white-list-2"],"host_organization":"https://openalex.org/P4310319869","host_organization_name":"Hindawi Publishing Corporation","host_organization_lineage":["https://openalex.org/P4310319869","https://openalex.org/P4310320595"],"host_organization_lineage_names":["Hindawi Publishing Corporation","Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Case Reports in Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2050602140.pdf","grobid_xml":"https://content.openalex.org/works/W2050602140.grobid-xml"},"referenced_works_count":22,"referenced_works":["https://openalex.org/W71680775","https://openalex.org/W131167820","https://openalex.org/W1566547188","https://openalex.org/W1593161820","https://openalex.org/W1595948267","https://openalex.org/W1976396447","https://openalex.org/W1982865150","https://openalex.org/W2001391874","https://openalex.org/W2008299431","https://openalex.org/W2013944173","https://openalex.org/W2024743838","https://openalex.org/W2038406835","https://openalex.org/W2053252092","https://openalex.org/W2062677740","https://openalex.org/W2064289904","https://openalex.org/W2089433102","https://openalex.org/W2096298057","https://openalex.org/W2118597788","https://openalex.org/W2162251899","https://openalex.org/W2164046385","https://openalex.org/W2170085571","https://openalex.org/W2329954324"],"related_works":["https://openalex.org/W2038406835","https://openalex.org/W2970584488","https://openalex.org/W2068957727","https://openalex.org/W2015293374","https://openalex.org/W2111133056","https://openalex.org/W2182254943","https://openalex.org/W2519773759","https://openalex.org/W2322625263","https://openalex.org/W4411915846","https://openalex.org/W2404140633"],"abstract_inverted_index":{"Background.":[0],"Chediak-Higashi":[1,175],"syndrome":[2],"(CHS)":[3],"is":[4,34,142],"a":[5,181],"rare,":[6],"autosomal":[7],"recessive":[8],"disorder":[9],"characterized":[10,27],"by":[11,28,36],"oculocutaneous":[12],"albinism,":[13],"immunodeficiency,":[14],"coagulopathy":[15],"and":[16,50,72,89,102,114,134,184],"late-onset,":[17],"progressive":[18],"neurological":[19],"dysfunction.":[20],"It":[21],"also":[22],"has":[23,190],"an":[24,57,103,171,191],"\"accelerated":[25],"phase\"":[26],"hemophagocytic":[29],"lymphohistiocytosis":[30],"(HLH).":[31],"The":[32,74],"disease":[33],"caused":[35],"mutations":[37,125,160,179,189],"in":[38,62,112,126,151,161,195],"the":[39,54,127,145,152,162,165],"CHS1/LYST":[40],"gene":[41],"located":[42],"on":[43],"chromosome":[44],"1,":[45],"which":[46],"affects":[47],"lysosome":[48],"morphology":[49],"function.":[51],"We":[52,156],"report":[53],"case":[55],"of":[56,144,148,170,187],"African-American":[58,67,172],"child":[59,173],"with":[60,70,83,117,174],"CHS":[61,149],"Case.":[63],"This":[64],"16-month":[65],"old":[66],"girl":[68],"presented":[69],"fever":[71],"lethargy.":[73],"proband":[75],"had":[76],"pale":[77],"skin":[78],"compared":[79],"to":[80],"her":[81],"parents,":[82],"light":[84],"brown":[85],"eyes,":[86],"silvery":[87],"hair":[88],"massive":[90],"hepatosplenomegaly.":[91],"Her":[92],"laboratory":[93],"evaluation":[94,120],"was":[95],"remarkable":[96],"for":[97],"pancytopenia,":[98],"high":[99],"serum":[100],"ferritin":[101],"elevated":[104],"LDH.":[105],"Bone":[106],"marrow":[107],"aspirate":[108],"revealed":[109,121],"large":[110],"inclusions":[111],"granulocytes":[113],"erythrophagocytosis":[115],"consistent":[116],"HLH.":[118],"Genetic":[119],"two":[122,178],"novel":[123],"nonsense":[124,159],"CHS1":[128,163],"gene:":[129],"c.3622C":[130],">":[131,136],"T":[132,137],"(p.Q1208X)":[133],"c.11002G":[135],"(p.E3668X).":[138],"Conclusions.":[139],"Our":[140],"patient":[141],"one":[143],"few":[146],"cases":[147],"reported":[150],"African":[153],"American":[154],"population.":[155],"identified":[157],"2":[158],"gene,":[164],"first":[166],"mutation":[167],"analysis":[168],"published":[169],"Syndrome.":[176],"These":[177],"predict":[180],"severe":[182],"phenotype":[183],"thus":[185],"identification":[186],"these":[188],"important":[192],"clinical":[193],"significance":[194],"CHS.":[196]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}