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Article

DNAJC21-related thrombocytopenia in a young adult female.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2023

Aslan Deniz, Akgun-Dogan Ozlem, Ay Beril, Çamurdan Mahmut Orhun, Mancılar Hanifenur, Alanay Yasemin

Abstract excerpt

Bone marrow failure type 3 (BMFS3) (MIM:617052) is a subtype of inherited bone marrow failure syndromes (IBMFS) caused by homozygous pathogenic variants in DNAJC21. It was first defined in 2016, and to date, 19 patients have been reported. Here we report the first adult patient; a 20-year-old female with a novel frameshift variant in DNAJC21 presents with thrombocytopenia, dysmorphic findings, and ovarian...

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PMID: 37186482
DOI: 10.1002/ajmg.c.32043

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