Ontology highlight
ABSTRACT:
SUBMITTER: Zhang W
PROVIDER: S-EPMC6198324 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Zhang Wenjuan W Taylor S Paige SP Ennis Hayley A HA Forlenza Kimberly N KN Duran Ivan I Li Bing B Sanchez Jorge A Ortiz JAO Nevarez Lisette L Nickerson Deborah A DA Bamshad Michael M Lachman Ralph S RS Krakow Deborah D Cohn Daniel H DH
Human mutation 20171106 1
Defects in the biosynthesis and/or function of primary cilia cause a spectrum of disorders collectively referred to as ciliopathies. A subset of these disorders is distinguished by profound abnormalities of the skeleton that include a long narrow chest with markedly short ribs, extremely short limbs, and polydactyly. These include the perinatal lethal short-rib polydactyly syndromes (SRPS) and the less severe asphyxiating thoracic dystrophy (ATD), Ellis-van Creveld (EVC) syndrome, and cranioecto ...[more]