{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Jung M"],"funding":["National Center for Advancing Translational Sciences","NCATS NIH HHS","Howard Hughes Medical Institute","National Heart, Lung, and Blood Institute","NHLBI NIH HHS","National Cancer Institute","NCI NIH HHS","American Society of Hematology"],"pagination":["971-975"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7914271"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["193(5)"],"pubmed_abstract":["Fanconi anaemia (FA) is a genetic disorder due to mutations in any of the 22 FANC genes (FANCA-FANCW) and has high phenotypic variation. Siblings may have similar clinical outcome because they share the same variants; however, such association has not been reported. We present the detailed phenotype and clinical course of 25 sibling sets with FA from two institutions. Haematological progression significantly correlated between siblings, which was confirmed in an additional 55 sibling pairs from the International Fanconi Anemia Registry. Constitutional abnormalities were not concordant, except for a moderate degree of concordance in kidney abnormalities and microcephaly."],"journal":["British journal of haematology"],"pubmed_title":["Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia."],"pmcid":["PMC7914271"],"funding_grant_id":["K99 HL150628","P30 CA008748","UL1 TR001866","R01 CA204127","R01 HL120922"],"pubmed_authors":["Lach FP","Mehta PA","Davies SM","Rosti RO","Smogorzewska A","Boulad F","Jung M","Jiang CS","Auerbach AD","Usleaman G","Correa da Rosa JM","Goodridge E"],"additional_accession":[]},"is_claimable":false,"name":"Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia.","description":"Fanconi anaemia (FA) is a genetic disorder due to mutations in any of the 22 FANC genes (FANCA-FANCW) and has high phenotypic variation. Siblings may have similar clinical outcome because they share the same variants; however, such association has not been reported. We present the detailed phenotype and clinical course of 25 sibling sets with FA from two institutions. Haematological progression significantly correlated between siblings, which was confirmed in an additional 55 sibling pairs from the International Fanconi Anemia Registry. Constitutional abnormalities were not concordant, except for a moderate degree of concordance in kidney abnormalities and microcephaly.","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jun","modification":"2024-12-03T18:46:20.325Z","creation":"2024-12-03T18:46:20.325Z"},"accession":"S-EPMC7914271","cross_references":{"pubmed":["32866285"],"doi":["10.1111/bjh.17061"]}}