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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Detalles Bibliográficos
Autores principales: 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
Formato: article
Lenguaje:EN
Publicado: Elsevier 2021
Materias:
Diseases of the blood and blood-forming organs
RC633-647.5
Acceso en línea:https://doaj.org/article/d6e37a0e897841d895391efe3b1b3f8a
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https://doaj.org/article/d6e37a0e897841d895391efe3b1b3f8a

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