Ontology highlight
ABSTRACT:
SUBMITTER: Graul-Neumann LM
PROVIDER: S-EPMC4023204 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
Graul-Neumann Luitgard M LM Deichsel Alexandra A Wille Ulrike U Kakar Naseebullah N Koll Randi R Bassir Christian C Ahmad Jamil J Cormier-Daire Valerie V Mundlos Stefan S Kubisch Christian C Borck Guntram G Klopocki Eva E Mueller Thomas D TD Doelken Sandra C SC Seemann Petra P
European journal of human genetics : EJHG 20131016 6
Acromesomelic chondrodysplasias (ACDs) are characterized by disproportionate shortening of the appendicular skeleton, predominantly affecting the middle (forearms and forelegs) and distal segments (hands and feet). Here, we present two consanguineous families with missense (c.157T>C, p.(C53R)) or nonsense (c.657G>A, p.(W219*)) mutations in BMPR1B. Homozygous affected individuals show clinical and radiographic findings consistent with ACD-type Grebe. Functional analysis of the missense mutation C ...[more]