Clinical and genetic spectrum of SBDS and DNAJC21 gene variants in bone marrow failure cases: Atypical and cryptic presentations
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Shwachman-Diamond syndrome (SDS) is a rare bone marrow failure disorder presenting with early onset cytopenia, chronic diarrhea, and failure to thrive with biallelic pathogenic variants in the SBDS (SDS1; 260400) gene. Recently, biallelic variants in DNAJC21 (... ...
