학술논문
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations.
Document Type
Article
Author
Source
Subject
*BONE marrow diseases
*ACUTE myeloid leukemia
*GENES
*EXOCRINE pancreatic insufficiency
*MEDICAL genetics
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Language
ISSN
0007-1048
Abstract
The article focuses on the whole exome sequencing (WES) being conducted in patients with Shwachman Diamond Syndrome (SDS) having mutation of the SBDS gene in the body. It talks about patients with SDS going through the risk of developing skeletal abnormalities, exocrine pancreatic insufficiency and hypoplastic bone marrow (BM).