A NOVEL MISSENSE MUTATION OUTSIDE DNAJ DOMAIN OF DNAJC21 IS ASSOCIATED WITH SHWACHMAN-DIAMOND SYNDROME

A NOVEL MISSENSE MUTATION OUTSIDE DNAJ DOMAIN OF DNAJC21 IS ASSOCIATED WITH SHWACHMAN-DIAMOND SYNDROME

Shwachman-Diamond Syndrome (SDS) and related bone marrow failure disorders are characterized by early onset pancytopenia with a hypocellular bone marrow, short stature, and pancreatic insufficiency, along with an increased risk for myeloid malignancies. Recently, several cases with an SDS-like syndr...

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Bibliographic Details
Main Authors: Mohammad Bilal Alsavaf, Fatma Zehra Okus, Alper Ozcan, Ekrem Unal, Jeffrey M. Verboon, Vijay G. Sankaran, Muhammed E. Dogan, Munis Dundar, Zehra Busra Azizoglu, Ahmet Eken, Hamiyet Donmez Altıuntas
Format: Article
Language:English
Published: Elsevier 2021-11-01
Series:Hematology, Transfusion and Cell Therapy
Online Access:http://www.sciencedirect.com/science/article/pii/S2531137921012335

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http://www.sciencedirect.com/science/article/pii/S2531137921012335

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