Article
Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within Gremlin-1, a component of the bone morphogenetic protein 4 pathway.
Birth defects research. Part A, Clinical and molecular teratology - 1 Jun 2014
Al Chawa Taofik, Ludwig Kerstin U, Fier Heide, Pötzsch Bernd, Reich Rudolf H, Schmidt Gül, Braumann Bert, Daratsianos Nikolaos, Böhmer Anne C, Schuencke Hannah, Alblas Margrieta, Fricker Nadine, Hoffmann Per, Knapp Michael, Lange Christoph, Nöthen Markus M, Mangold Elisabeth
Abstract excerpt
BACKGROUND: The genes Gremlin-1 (GREM1) and Noggin (NOG) are components of the bone morphogenetic protein 4 pathway, which has been implicated in craniofacial development. Both genes map to recently identified susceptibility loci (chromosomal region 15q13, 17q22) for nonsyndromic cleft lip with or without cleft palate (nsCL/P). The aim of the present study was to determine whether rare variants in either gene are...
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