Publication

Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL, Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. Am J Hum Genet72(2):419-28 2003
PubMed ID: 12491225

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