{"id":"https://openalex.org/W2912508679","doi":"https://doi.org/10.1055/s-0039-1678682","title":"Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis","display_name":"Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis","publication_year":2019,"publication_date":"2019-02-13","ids":{"openalex":"https://openalex.org/W2912508679","doi":"https://doi.org/10.1055/s-0039-1678682","mag":"2912508679","pmid":"https://pubmed.ncbi.nlm.nih.gov/31406621","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6688885"},"language":"en","primary_location":{"id":"doi:10.1055/s-0039-1678682","doi":"https://doi.org/10.1055/s-0039-1678682","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-0039-1678682","pdf_url":null,"source":{"id":"https://openalex.org/S2764756373","display_name":"Journal of Pediatric Genetics","issn_l":"2146-460X","issn":["2146-460X","2146-4596"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","ki-jl-1","poland-70","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Pediatric Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6688885/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5017649537","display_name":"Flor V\u00e1squez Sotomayor","orcid":"https://orcid.org/0000-0003-1695-0409","observed_orcids":["https://orcid.org/0000-0003-1695-0409"]},"institutions":[{"id":"https://openalex.org/I4210102243","display_name":"Instituto Nacional de Salud del Ni\u00f1o","ror":"https://ror.org/01a2d7067","country_code":"PE","type":"healthcare","lineage":["https://openalex.org/I4210102243","https://openalex.org/I4210149555"]}],"countries":["PE"],"is_corresponding":false,"raw_author_name":"Flor V\u00e1squez Sotomayor","raw_affiliation_strings":["Department of Genetics and Inborn Errors of Metabolism, Instituto Nacional de Salud del Ni\u00f1o, Bre\u00f1a, Lima, Per\u00fa"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics and Inborn Errors of Metabolism, Instituto Nacional de Salud del Ni\u00f1o, Bre\u00f1a, Lima, Per\u00fa","institution_ids":["https://openalex.org/I4210102243"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5016928207","display_name":"Hugo Hern\u00e1n Abarca-Barriga","orcid":"https://orcid.org/0000-0002-0276-2557","observed_orcids":["https://orcid.org/0000-0002-0276-2557"]},"institutions":[{"id":"https://openalex.org/I4210102243","display_name":"Instituto Nacional de Salud del Ni\u00f1o","ror":"https://ror.org/01a2d7067","country_code":"PE","type":"healthcare","lineage":["https://openalex.org/I4210102243","https://openalex.org/I4210149555"]},{"id":"https://openalex.org/I4210120426","display_name":"Universidad Ricardo Palma","ror":"https://ror.org/02mb17771","country_code":"PE","type":"education","lineage":["https://openalex.org/I4210120426"]}],"countries":["PE"],"is_corresponding":true,"raw_author_name":"Hugo Hern\u00e1n Abarca-Barriga","raw_affiliation_strings":["Department of Genetics and Inborn Errors of Metabolism, Instituto Nacional de Salud del Ni\u00f1o, Bre\u00f1a, Lima, Per\u00fa","Facultad de Medicina Humana, Universidad Ricardo Palma, Lima, Per\u00fa"],"raw_orcid":"https://orcid.org/0000-0002-0276-2557","affiliations":[{"raw_affiliation_string":"Department of Genetics and Inborn Errors of Metabolism, Instituto Nacional de Salud del Ni\u00f1o, Bre\u00f1a, Lima, Per\u00fa","institution_ids":["https://openalex.org/I4210102243"]},{"raw_affiliation_string":"Facultad de Medicina Humana, Universidad Ricardo Palma, Lima, Per\u00fa","institution_ids":["https://openalex.org/I4210120426"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5016928207"],"corresponding_institution_ids":["https://openalex.org/I4210102243","https://openalex.org/I4210120426"],"apc_list":null,"apc_paid":null,"fwci":0.5301,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.66489934,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"08","issue":"03","first_page":"147","last_page":"152"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.9961000084877014,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.9961000084877014,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0015999999595806003,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.000699999975040555,"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/cystic-fibrosis","display_name":"cystic fibrosis","score":1.0},{"id":"https://openalex.org/keywords/homozygous-deletion","display_name":"homozygous deletion","score":0.9110000133514404},{"id":"https://openalex.org/keywords/loss-of-heterozygosity","display_name":"loss of heterozygosity","score":0.9369999766349792},{"id":"https://openalex.org/keywords/meconium-ileus","display_name":"meconium ileus","score":0.9620000123977661},{"id":"https://openalex.org/keywords/pancreatic-insufficiency","display_name":"pancreatic insufficiency","score":0.996999979019165},{"id":"https://openalex.org/keywords/peruvian-patients","display_name":"Peruvian patients","score":0.4970000088214874},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.6029999852180481},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.4309999942779541}],"concepts":[{"id":"https://openalex.org/C2776938444","wikidata":"https://www.wikidata.org/wiki/Q178194","display_name":"Cystic fibrosis","level":2,"score":0.8864189386367798},{"id":"https://openalex.org/C2910510515","wikidata":"https://www.wikidata.org/wiki/Q937557","display_name":"Meconium Ileus","level":5,"score":0.7100529670715332},{"id":"https://openalex.org/C2778428886","wikidata":"https://www.wikidata.org/wiki/Q420470","display_name":"Cystic fibrosis transmembrane conductance regulator","level":3,"score":0.7065644264221191},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.5984703302383423},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.5280643105506897},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4739142656326294},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.46679478883743286},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.44107481837272644},{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.440005362033844},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.42356932163238525},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.41890189051628113},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3750653862953186},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3740830421447754},{"id":"https://openalex.org/C2780985857","wikidata":"https://www.wikidata.org/wiki/Q937557","display_name":"Meconium","level":4,"score":0.23334121704101562},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.19596856832504272},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.18012425303459167},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.08645951747894287}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1055/s-0039-1678682","doi":"https://doi.org/10.1055/s-0039-1678682","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-0039-1678682","pdf_url":null,"source":{"id":"https://openalex.org/S2764756373","display_name":"Journal of Pediatric Genetics","issn_l":"2146-460X","issn":["2146-460X","2146-4596"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","ki-jl-1","poland-70","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Pediatric Genetics","raw_type":"journal-article"},{"id":"pmid:31406621","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31406621","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":"Journal of pediatric genetics","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:6688885","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6688885/","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Pediatr Genet","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:6688885","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6688885/","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Pediatr Genet","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9537000060081482}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W164826677","https://openalex.org/W1677528798","https://openalex.org/W1994311253","https://openalex.org/W1995625254","https://openalex.org/W2001174573","https://openalex.org/W2018822881","https://openalex.org/W2028171116","https://openalex.org/W2030267270","https://openalex.org/W2031980707","https://openalex.org/W2061750255","https://openalex.org/W2075257287","https://openalex.org/W2099008318","https://openalex.org/W2104479178","https://openalex.org/W2114127069","https://openalex.org/W2127195283","https://openalex.org/W2131587128","https://openalex.org/W2132756075","https://openalex.org/W2143827621","https://openalex.org/W2153362478","https://openalex.org/W2605561461","https://openalex.org/W2751226162","https://openalex.org/W2766035399","https://openalex.org/W3106798016","https://openalex.org/W4241884576"],"related_works":["https://openalex.org/W7100689673","https://openalex.org/W2030267270","https://openalex.org/W2153157862","https://openalex.org/W2626635374","https://openalex.org/W1966258876","https://openalex.org/W4205768715","https://openalex.org/W1995003624","https://openalex.org/W2084280858","https://openalex.org/W2138536033","https://openalex.org/W2061857338"],"abstract_inverted_index":{"Abstract":[0],"We":[1],"report":[2],"the":[3,17,44,60,70,94,105,112,128],"first":[4],"case":[5,103],"in":[6,117],"Peru":[7],"of":[8,16,43,47,59,69,83,85,89,108,114],"cystic":[9,18,39],"fibrosis":[10,19],"caused":[11],"by":[12],"a":[13,66,78,90,119],"homozygous":[14,67],"deletion":[15,68,88],"transmembrane":[20],"conductance":[21],"regulator":[22],"(CFTR)":[23],"gene.":[24,96],"A":[25],"10-month-old":[26],"child":[27,45],"who":[28],"presented":[29],"with":[30,87],"meconium":[31],"ileus":[32],"and":[33,52,111,122],"pancreatic":[34],"insufficiency":[35],"was":[36],"tested":[37],"for":[38],"fibrosis.":[40],"Both":[41],"parents":[42],"are":[46,50],"Peruvian":[48],"background,":[49],"nonconsanguineous,":[51],"have":[53],"no":[54],"personal":[55],"or":[56],"family":[57],"history":[58],"disease.":[61],"Chromosome":[62],"microarray":[63],"analysis":[64],"revealed":[65],"CFTR":[71,95],"gene":[72],"on":[73],"chromosome":[74],"7":[75],"(7q31.2)":[76],"within":[77],"maternally":[79],"derived":[80],"12.8-Mb":[81],"region":[82,91],"loss":[84],"heterozygosity":[86],"that":[92],"includes":[93],"Parental":[97],"testing":[98,110],"confirmed":[99],"this":[100],"finding.":[101],"This":[102],"highlights":[104],"great":[106],"importance":[107],"molecular":[109],"study":[113],"chromosomal":[115],"rearrangements":[116],"reaching":[118],"correct":[120],"diagnosis":[121],"providing":[123],"proper":[124],"genetic":[125],"counseling":[126],"to":[127],"affected":[129],"families.":[130]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2019-02-21T00:00:00"}
