Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

Cohn DH, Ehtesham N, Krakow D, Unger S, Shanske A, Reinker K, Powell BR, Rimoin DL
Am J Hum Genet. 2003 72 (2): 419-28

PMID: 12491225 · PMCID: PMC420018 · DOI:10.1086/346176

MeSH Terms (20)

Amino Acid Sequence Base Sequence Child Chromosomes, Human, Pair 18 Consanguinity Developmental Disabilities Evolution, Molecular Female Genetic Linkage Homozygote Humans Intellectual Disability Male Molecular Sequence Data Mutation Osteochondrodysplasias Pedigree Phenotype Phylogeny Sequence Homology, Amino Acid

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