Probable digenic inheritance of Diamond–Blackfan anemia

A 26‐year‐old female proband with a clinical diagnosis and consistent phenotype of Diamond–Blackfan anemia (DBA, OMIM 105650) without an identified genotype was referred to the Undiagnosed Diseases Network. DBA is classically associated with monoallelic variants that have an autosomal‐dominant or ‐r...

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Veröffentlicht in:	American journal of medical genetics. Part A 2024-03, Vol.194 (3), p.e63454-n/a
Hauptverfasser:	Furuta, Yutaka, Tinker, Rory J, Gulsevin, Alican, Neumann, Serena M., Hamid, Rizwan, Cogan, Joy D., Rives, Lynette, Liu, Qi, Chen, Hua‐Chang, Joos, Karen M., Phillips, John A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alleles Anemia Anemia, Diamond-Blackfan - diagnosis Anemia, Diamond-Blackfan - genetics Base Sequence Diamond–Blackfan anemia digenic Female Genotype Genotypes Heredity Humans Learning algorithms Machine learning Mutation Phenotype Phenotypes Ribosomal Proteins - genetics RPL27 RPS19 structural biology
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