Ontology highlight
ABSTRACT:
SUBMITTER: Leslie EJ
PROVIDER: S-EPMC4423539 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Leslie Elizabeth J EJ O'Sullivan James J Cunningham Michael L ML Singh Ankur A Goudy Steven L SL Ababneh Faroug F Alsubaie Lamia L Ch'ng Gaik-Siew GS van der Laar Ingrid M B H IM Hoogeboom A Jeannette M AJ Dunnwald Martine M Kapoor Seema S Jiramongkolchai Pawina P Standley Jennifer J Manak J Robert JR Murray Jeffrey C JC Dixon Michael J MJ
American journal of medical genetics. Part A 20150301 3
The popliteal pterygia syndromes are a distinct subset of the hundreds of Mendelian orofacial clefting syndromes. Popliteal pterygia syndromes have considerable variability in severity and in the associated phenotypic features but are all characterized by cutaneous webbing across one or more major joints, cleft lip and/or palate, syndactyly, and genital malformations. Heterozygous mutations in IRF6 cause popliteal pterygium syndrome (PPS) while homozygous mutations in RIPK4 or CHUK (IKKA) cause ...[more]