{"id":"https://openalex.org/W4401015877","doi":"https://doi.org/10.1097/md.0000000000039048","title":"A patient with 18p11.32-p11.21 deletion have monaural deafness caused by an inadequate haplodose of THOC1: A case report","display_name":"A patient with 18p11.32-p11.21 deletion have monaural deafness caused by an inadequate haplodose of THOC1: A case report","publication_year":2024,"publication_date":"2024-07-26","ids":{"openalex":"https://openalex.org/W4401015877","doi":"https://doi.org/10.1097/md.0000000000039048","pmid":"https://pubmed.ncbi.nlm.nih.gov/39058882","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/11272337"},"language":"en","primary_location":{"id":"doi:10.1097/md.0000000000039048","doi":"https://doi.org/10.1097/md.0000000000039048","is_oa":true,"landing_page_url":"https://doi.org/10.1097/md.0000000000039048","pdf_url":null,"source":{"id":"https://openalex.org/S28966261","display_name":"Medicine","issn_l":"0025-7974","issn":["0025-7974","1536-5964"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"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://doi.org/10.1097/md.0000000000039048","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5113306111","display_name":"Geng Ouyang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I173759888","display_name":"Hunan Normal University","ror":"https://ror.org/053w1zy07","country_code":"CN","type":"education","lineage":["https://openalex.org/I173759888"]},{"id":"https://openalex.org/I4210137566","display_name":"Changsha Hospital for Maternal and Child Health Care","ror":"https://ror.org/04w5mzj20","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210137566"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Geng Ouyang","raw_affiliation_strings":["Central Laboratory, Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Central Laboratory, Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China","institution_ids":["https://openalex.org/I173759888","https://openalex.org/I4210137566"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105099939","display_name":"Enhuan Yi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I173759888","display_name":"Hunan Normal University","ror":"https://ror.org/053w1zy07","country_code":"CN","type":"education","lineage":["https://openalex.org/I173759888"]},{"id":"https://openalex.org/I4210137566","display_name":"Changsha Hospital for Maternal and Child Health Care","ror":"https://ror.org/04w5mzj20","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210137566"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Enhuan Yi","raw_affiliation_strings":["Central Laboratory, Changsha Hospital for Maternal and Child Health Care Affiliated to Hunan Normal University, Changsha, China","Central Laboratory, Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Central Laboratory, Changsha Hospital for Maternal and Child Health Care Affiliated to Hunan Normal University, Changsha, China","institution_ids":["https://openalex.org/I173759888","https://openalex.org/I4210137566"]},{"raw_affiliation_string":"Central Laboratory, Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China","institution_ids":["https://openalex.org/I173759888","https://openalex.org/I4210137566"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113306112","display_name":"Huali Qin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I173759888","display_name":"Hunan Normal University","ror":"https://ror.org/053w1zy07","country_code":"CN","type":"education","lineage":["https://openalex.org/I173759888"]},{"id":"https://openalex.org/I4210137566","display_name":"Changsha Hospital for Maternal and Child Health Care","ror":"https://ror.org/04w5mzj20","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210137566"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Huali Qin","raw_affiliation_strings":["Central Laboratory, Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Central Laboratory, Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China","institution_ids":["https://openalex.org/I173759888","https://openalex.org/I4210137566"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002163021","display_name":"Xingxing Duan","orcid":"https://orcid.org/0000-0002-4094-5127","observed_orcids":["https://orcid.org/0000-0002-4094-5127"]},"institutions":[{"id":"https://openalex.org/I173759888","display_name":"Hunan Normal University","ror":"https://ror.org/053w1zy07","country_code":"CN","type":"education","lineage":["https://openalex.org/I173759888"]},{"id":"https://openalex.org/I4210137566","display_name":"Changsha Hospital for Maternal and Child Health Care","ror":"https://ror.org/04w5mzj20","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210137566"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xingxing Duan","raw_affiliation_strings":["Central Laboratory, Changsha Hospital for Maternal and Child Health Care Affiliated to Hunan Normal University, Changsha, China","Central Laboratory, Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Central Laboratory, Changsha Hospital for Maternal and Child Health Care Affiliated to Hunan Normal University, Changsha, China","institution_ids":["https://openalex.org/I173759888","https://openalex.org/I4210137566"]},{"raw_affiliation_string":"Central Laboratory, Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China","institution_ids":["https://openalex.org/I173759888","https://openalex.org/I4210137566"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037085744","display_name":"Sifeng Wang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I173759888","display_name":"Hunan Normal University","ror":"https://ror.org/053w1zy07","country_code":"CN","type":"education","lineage":["https://openalex.org/I173759888"]},{"id":"https://openalex.org/I4210137566","display_name":"Changsha Hospital for Maternal and Child Health Care","ror":"https://ror.org/04w5mzj20","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210137566"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Sifeng Wang","raw_affiliation_strings":["Central Laboratory, Changsha Hospital for Maternal and Child Health Care Affiliated to Hunan Normal University, Changsha, China","Central Laboratory, Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Central Laboratory, Changsha Hospital for Maternal and Child Health Care Affiliated to Hunan Normal University, Changsha, China","institution_ids":["https://openalex.org/I173759888","https://openalex.org/I4210137566"]},{"raw_affiliation_string":"Central Laboratory, Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China","institution_ids":["https://openalex.org/I173759888","https://openalex.org/I4210137566"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5005483539","display_name":"Xiangwen Peng","orcid":"https://orcid.org/0000-0001-9110-5163","observed_orcids":["https://orcid.org/0000-0001-9110-5163"]},"institutions":[{"id":"https://openalex.org/I173759888","display_name":"Hunan Normal University","ror":"https://ror.org/053w1zy07","country_code":"CN","type":"education","lineage":["https://openalex.org/I173759888"]},{"id":"https://openalex.org/I4210137566","display_name":"Changsha Hospital for Maternal and Child Health Care","ror":"https://ror.org/04w5mzj20","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210137566"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Xiangwen Peng","raw_affiliation_strings":["Central Laboratory, Changsha Hospital for Maternal and Child Health Care Affiliated to Hunan Normal University, Changsha, China","Central Laboratory, Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China","Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China (e-mail","Xiangwen Peng, Changsha Hospital for Maternal and Child Health Care affiliated to Hunan Normal University, Changsha, China"],"raw_orcid":"https://orcid.org/0000-0001-9110-5163","affiliations":[{"raw_affiliation_string":"Central Laboratory, Changsha Hospital for Maternal and Child Health Care Affiliated to Hunan Normal University, Changsha, China","institution_ids":["https://openalex.org/I173759888","https://openalex.org/I4210137566"]},{"raw_affiliation_string":"Central Laboratory, Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China","institution_ids":["https://openalex.org/I173759888","https://openalex.org/I4210137566"]},{"raw_affiliation_string":"Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, China (e-mail","institution_ids":["https://openalex.org/I173759888","https://openalex.org/I4210137566"]},{"raw_affiliation_string":"Xiangwen Peng, Changsha Hospital for Maternal and Child Health Care affiliated to Hunan Normal University, Changsha, China","institution_ids":["https://openalex.org/I173759888","https://openalex.org/I4210137566"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5005483539"],"corresponding_institution_ids":["https://openalex.org/I173759888","https://openalex.org/I4210137566"],"apc_list":{"value":1950,"currency":"USD","value_usd":1950},"apc_paid":{"value":1950,"currency":"USD","value_usd":1950},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"103","issue":"30","first_page":"e39048","last_page":"e39048"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.7026000022888184,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.7026000022888184,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.13289999961853027,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.049300000071525574,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/thoc1","display_name":"THOC1","score":0.9610000252723694},{"id":"https://openalex.org/keywords/unilateral-hearing-loss","display_name":"unilateral hearing loss","score":0.6320000290870667},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.7990000247955322},{"id":"https://openalex.org/keywords/hepatomegaly","display_name":"hepatomegaly","score":0.5180000066757202},{"id":"https://openalex.org/keywords/renal-hamartoma","display_name":"renal hamartoma","score":0.8889999985694885},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.6510000228881836}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9071212410926819},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.7555966377258301},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.7174887657165527},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.46344685554504395},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3767603933811188},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.30064111948013306},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.24070891737937927},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002887","descriptor_name":"Chromosomes, Human, Pair 18","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003638","descriptor_name":"Deafness","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008869","descriptor_name":"Microtubule-Associated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D046088","descriptor_name":"Hearing Loss, Unilateral","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1097/md.0000000000039048","doi":"https://doi.org/10.1097/md.0000000000039048","is_oa":true,"landing_page_url":"https://doi.org/10.1097/md.0000000000039048","pdf_url":null,"source":{"id":"https://openalex.org/S28966261","display_name":"Medicine","issn_l":"0025-7974","issn":["0025-7974","1536-5964"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medicine","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11272337","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11272337","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11272337/pdf/medi-103-e39048.pdf","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":"Medicine (Baltimore)","raw_type":"Text"},{"id":"pmid:39058882","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39058882","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":"Medicine","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1097/md.0000000000039048","doi":"https://doi.org/10.1097/md.0000000000039048","is_oa":true,"landing_page_url":"https://doi.org/10.1097/md.0000000000039048","pdf_url":null,"source":{"id":"https://openalex.org/S28966261","display_name":"Medicine","issn_l":"0025-7974","issn":["0025-7974","1536-5964"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4401015877.pdf","grobid_xml":"https://content.openalex.org/works/W4401015877.grobid-xml"},"referenced_works_count":11,"referenced_works":["https://openalex.org/W1589962786","https://openalex.org/W1978033115","https://openalex.org/W2002623897","https://openalex.org/W2006011215","https://openalex.org/W2074876572","https://openalex.org/W2308779277","https://openalex.org/W2330517155","https://openalex.org/W3043437927","https://openalex.org/W3048900869","https://openalex.org/W4386246621","https://openalex.org/W4386251677"],"related_works":["https://openalex.org/W2969874226","https://openalex.org/W2770076938","https://openalex.org/W1989112017","https://openalex.org/W4404237146","https://openalex.org/W2064019176","https://openalex.org/W7136219818","https://openalex.org/W7098165065","https://openalex.org/W4283742711","https://openalex.org/W3080971701","https://openalex.org/W4229791880"],"abstract_inverted_index":{"BACKGROUND:":[0],"THOC1":[1,20,70,94,143,155],"mutation":[2],"causes":[3,22],"Deafness,":[4],"autosomal":[5],"dominant":[6],"86":[7],"[OMIM:":[8],"620280].":[9],"However,":[10,112],"it":[11],"has":[12],"not":[13,77],"been":[14],"reported":[15],"whether":[16],"deletion":[17,62,67,156],"of":[18,44,63,68,104,116,123,129],"the":[19,39,66,74,114,119,134],"gene":[21],"deafness.":[23,99,148,160],"METHODS:":[24],"Here,":[25],"we":[26,137],"report":[27],"a":[28,61,124,153],"1-year-old":[29],"girl":[30],"with":[31,158],"clinical":[32],"features":[33],"including":[34],"Hypotonia,":[35],"unilateral":[36,98,147,159],"deafness":[37],"in":[38,47,73,78,140],"right":[40],"ear,":[41],"and":[42,127],"widening":[43],"lateral":[45],"ventricles":[46],"6":[48,102],"months.":[49],"Gene":[50],"mutations":[51],"were":[52],"identified":[53],"by":[54],"whole-exome":[55,59],"sequencing.":[56],"RESULTS:":[57],"Through":[58],"sequencing,":[60],"18p11.32-p11.21":[64],"contains":[65],"all":[69],"genes":[71],"found":[72],"patient":[75,120],"but":[76],"her":[79],"parents'":[80],"genomic":[81],"DNA.":[82],"The":[83],"ClinGen":[84],"Database":[85],"Haplodose":[86],"Insufficiency":[87],"(HI)":[88],"prediction":[89],"tool":[90],"determined":[91],"that":[92,139],"HI,":[93],"HI":[95,144],"may":[96,145],"cause":[97,146],"Moreover,":[100],"after":[101],"months":[103],"rehabilitation":[105],"training,":[106],"muscle":[107],"tone":[108],"returned":[109],"to":[110],"normal.":[111],"at":[113],"age":[115],"1":[117],"year,":[118],"developed":[121],"symptoms":[122],"large":[125],"liver":[126],"hamartoma":[128],"both":[130],"kidneys.":[131],"CONCLUSION:":[132],"From":[133],"above":[135],"results,":[136],"propose":[138],"our":[141],"patient,":[142],"Therefore,":[149],"this":[150],"study":[151],"provides":[152],"new":[154],"associated":[157]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2024-07-27T00:00:00"}
