Article
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
Human molecular genetics - 26 Aug 2023
Crane-Smith Zoe, De Castro Sandra C P, Nikolopoulou Evanthia, Wolujewicz Paul, Smedley Damian, Lei Yunping, Mather Emma, Santos Chloe, Hopkinson Mark, Pitsillides Andrew A, Finnell Richard H, Ross M Elisabeth, Copp Andrew J, Greene Nicholas D E
Abstract excerpt
Orofacial clefts, including cleft lip and palate (CL/P) and neural tube defects (NTDs) are among the most common congenital anomalies, but knowledge of the genetic basis of these conditions remains incomplete. The extent to which genetic risk factors are shared between CL/P, NTDs and related anomalies is also unclear. While identification of causative genes has largely focused on coding and loss of function...
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