Article
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
American journal of human genetics - 7 Apr 2016
Mangold Elisabeth, Böhmer Anne C, Ishorst Nina, Hoebel Ann-Kathrin, Gültepe Pinar, Schuenke Hannah, Klamt Johanna, Hofmann Andrea, Gölz Lina, Raff Ruth, Tessmann Peter, Nowak Stefanie, Reutter Heiko, Hemprich Alexander, Kreusch Thomas, Kramer Franz-Josef, Braumann Bert, Reich Rudolf, Schmidt Gül, Jäger Andreas, Reiter Rudolf, Brosch Sibylle, Stavusis Janis, Ishida Miho, Seselgyte Rimante, Moore Gudrun E, Nöthen Markus M, Borck Guntram, Aldhorae Khalid A, Lace Baiba, Stanier Philip, Knapp Michael, Ludwig Kerstin U
Abstract excerpt
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...
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