Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain.

Pogue R, Ehtesham N, Repetto GM, Carrero-Valenzuela R, de Casella CB, de Pons SP, Martínez-Frías ML, Heuertz S, Cormier-Daire V, Cohn DH
Am J Med Genet A. 2005 138 (1): 75-8

PMID: 16097008 · DOI:10.1002/ajmg.a.30912

MeSH Terms (20)

Abnormalities, Multiple Argentina Chile DNA Mutational Analysis Family Health Female Growth Disorders Guam Haplotypes Humans Intellectual Disability Intracellular Signaling Peptides and Proteins Male Mutation Osteochondrodysplasias Pedigree Polymorphism, Single Nucleotide Proteins Spain Syndrome

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