Compound Heterozygous Mutations of the SBDS Gene in a Patient with Shwachman-Diamond Syndrome, Type 1 Diabetes Mellitus and Osteoporosis
Author:
Publisher
Elsevier BV
Subject
Gastroenterology,Hepatology,Endocrinology, Diabetes and Metabolism
Reference23 articles.
1. The syndrome of pancreatic insufficiency and bone marrow dysfunction;Shwachman;J Pediatr,1964
2. Congenital hypoplasia of the exocrine pancreas;Bodian;Acta Paediatr,1964
3. Shwachman’s syndrome. A review of 21 cases;Aggett;Arch Dis Child,1980
4. Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar;Ginzberg;J Pediatr,1999
5. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7;Goobie;Am J Hum Genet,2001
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1. Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature;Children;2024-06-07
2. Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature;Italian Journal of Pediatrics;2023-08-14
3. Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature;2023-03-15
4. Endocrine dysfunction in children with Shwachman-Diamond syndrome;Endokrynologia Polska;2021-06-30
5. Somatic development in children with Shwachman-Diamond syndrome;Italian Journal of Pediatrics;2020-10-12
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