Diamond-Blackfan Anemia.
Sieff C.
Sieff C.
2009 Jun 25 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2009 Jun 25 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 20301769
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The molecular diagnosis can be established in a female proband by identification of a heterozygous pathogenic variant in one of the 22 genes associated with DBA. The molecular diagnosis can be established in a male proband by identification of a heterozygous pathogenic var …
The molecular diagnosis can be established in a female proband by identification of a heterozygous pathogenic variant in one of the 22 ge …