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Paper Details

A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
Hum Mol Genet
0
2023
4 kb LTR, 5' UTR, Axd, Axial defects, CL/P, GRHL2, GRHL2 upstream region, Grainyhead-like 2, Grhl2, Grhl2Axd, NTDs, Orofacial clefts, abnormalities of the craniofacial bones, causative genes, cleft lip and palate, cleft palate, congenital anomalies, craniofacial anomalies, encephalocele, frontal and/or basal encephalocele, homozygous, homozygous mutant embryos, humans, long non-coding RNA, mice, midline cleft lip and palate, neural tube defects, non-coding regulatory region, orofacial clefts, retrotransposon, reverse strand, spina bifida, spinal NTDs, structural anomalies
Author NameAffiliation
Damian SmedleyWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London
Yunping LeiCenter for Precision Environmental Health, Baylor College of Medicine
Andrew A PitsillidesRoyal Veterinary College
Richard H FinnellCenter for Precision Environmental Health, Baylor College of Medicine
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