Article
Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.
American journal of medical genetics. Part A - 1 Jul 2020
Furutani Elissa, Shah Ankoor S, Zhao Yongdong, Andorsky David, Dedeoglu Fatma, Geddis Amy, Zhou Yu, Libermann Towia A, Myers Kasiani C, Shimamura Akiko
Abstract excerpt
Shwachman-Diamond syndrome (SDS) is an autosomal recessive multisystem disorder characterized by exocrine pancreatic dysfunction, bone marrow failure, and leukemia predisposition. Approximately 90% of cases are due to biallelic mutations in the Shwachman-Bodian-Diamond (SBDS) gene. Additional phenotypic features variably associated with SDS include skeletal, neurologic, hepatic, cardiac, endocrine, and dental...
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