Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13081314
Abstract: Introduction. Shwachman-Diamond Syndrome (SDS) is an autosomal-recessive disorder characterized by neutropenia, pancreatic exocrine insufficiency, skeletal dysplasia, and an increased risk for leukemic transformation. Biallelic mutations in the SBDS gene have been found in about 90%… read more here.
Keywords: diamond syndrome; kmt2a gene; variant; gene ... See more keywords