Compound heterozygous mutations of the SBDS gene in a patient with Shwachman-Diamond syndrome, type 1 diabetes mellitus and osteoporosis

Pancreatology

Volumn 6, Issue 6, 2006, Pages 549-554

  Rosendahl, Jonas ^a   Teich, Niels ^a,c   Mössner, Joachim ^a   Edelmann, Jeanett ^a   Koch, Christian A ^a,b  

^a UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^b UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

Diabetes mellitus; Gene conversion mutation; Osteoporosis; Shwachman Diamond syndrome

Indexed keywords

ALENDRONIC ACID; CALCIUM; INSULIN; PANCREAS ENZYME; VITAMIN D;

ADULT; ALLELE; ARTICLE; BONE DENSITOMETRY; BONE MARROW BIOPSY; BONE METABOLISM; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DUAL ENERGY X RAY ABSORPTIOMETRY; FAMILY HISTORY; FEMUR OSTEOTOMY; FOLLOW UP; GENE CONVERSION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; HYPOPHOSPHATEMIA; INSULIN DEPENDENT DIABETES MELLITUS; INTROSPECTION; LYMPHOCYTOSIS; MALE; NUCLEOTIDE SEQUENCE; OSTEOPOROSIS; PANCREAS INSUFFICIENCY; PLASMACYTOSIS; PRIORITY JOURNAL; PSEUDOGENE; SHWACHMAN SYNDROME; THROMBOCYTOPENIA; VARUS KNEE;

EID: 33847669287     PISSN: 14243903     EISSN: 14243911     Source Type: Journal    
DOI: 10.1159/000096978     Document Type: Article

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