Compound Heterozygous Mutations of the SBDS Gene in a Patient with Shwachman-Diamond Syndrome, Type 1 Diabetes Mellitus and Osteoporosis

Jonas Rosendahl,Niels Teich,Joachim Mössner,Jeanett Edelmann,Christian A. Koch

Compound Heterozygous Mutations of the SBDS Gene in a Patient with Shwachman-Diamond Syndrome, Type 1 Diabetes Mellitus and Osteoporosis

2006

Jonas Rosendahl
Niels Teich
Joachim Mössner
Jeanett Edelmann
Christian A. Koch

Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, skeletal abnormalities and hematological dysfunction. The genetic analysis of the SBDS gene and the long-term fo

Keywords:

SBDS
Compound heterozygosity
Shwachman–Diamond syndrome
Osteoporosis
Type 1 diabetes
Diabetes mellitus
Exocrine pancreatic insufficiency
Gene
Endocrinology
Medicine
Internal medicine
Allele
Genotype
Genetics
Mutation

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