Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.

Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH
Am J Hum Genet. 2002 71 (4): 947-51

PMID: 12161821 · PMCID: PMC378548 · DOI:10.1086/342669

MeSH Terms (9)

Alleles Chromosome Mapping Chromosomes, Human, Pair 18 Female Humans Male Mutation Osteochondrodysplasias Pedigree

Connections (1)

This publication is referenced by other Labnodes entities: