Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, B├ętard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM
Am J Hum Genet. 2001 68 (4): 1048-54

PMID: 11254457 · PMCID: PMC1275624 · DOI:10.1086/319505

MeSH Terms (22)

Alleles Bone Marrow Diseases Centromere Chromosome Mapping Chromosomes, Human, Pair 7 Exocrine Pancreatic Insufficiency Female Gene Frequency Genes, Recessive Genetic Heterogeneity Genetic Linkage Haplotypes Humans Lod Score Male Models, Genetic Musculoskeletal Abnormalities Mutation Myeloid Cells Pedigree Software Syndrome

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