Ontology highlight
ABSTRACT:
SUBMITTER: Mangold E
PROVIDER: S-EPMC4833214 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
Mangold Elisabeth E Böhmer Anne C AC Ishorst Nina N Hoebel Ann-Kathrin AK Gültepe Pinar P Schuenke Hannah H Klamt Johanna J Hofmann Andrea A Gölz Lina L Raff Ruth R Tessmann Peter P Nowak Stefanie S Reutter Heiko H Hemprich Alexander A Kreusch Thomas T Kramer Franz-Josef FJ Braumann Bert B Reich Rudolf R Schmidt Gül G Jäger Andreas A Reiter Rudolf R Brosch Sibylle S Stavusis Janis J Ishida Miho M Seselgyte Rimante R Moore Gudrun E GE Nöthen Markus M MM Borck Guntram G Aldhorae Khalid A KA Lace Baiba B Stanier Philip P Knapp Michael M Ludwig Kerstin U KU
American journal of human genetics 20160324 4
Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. Recently, ∼5% of VWS-affected individuals were identified with mutations in the grainy head-like 3 gene (GRHL3). To investigate GRHL3 in nonsyndromic clefting, we sequenced it ...[more]