Atelosteogenesis type II (AO2) is a neonatally lethal chondrodysplasia, characterized by severely shortened limbs, small chest, scoliosis, clubfoot, abducted thumbs and great toes, and cleft palate. AO2 is an autosomal recessive disorder caused by mutations in the DTDST gene.
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
Hastbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES
タイトル
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
