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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| Auteurs principaux: | , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Elsevier
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/d6e37a0e897841d895391efe3b1b3f8a |
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