Publication

Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH, Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. Am J Hum Genet71(4):947-51 2002
PubMed ID: 12161821

Records Return:  (1) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM18308Male11 YR2880probandDYGGVE-MELCHIOR-CLAUSEN DISEASE