Orofacial clefts embryology, classification, epidemiology, and genetics

G Nasreddine, J El Hajj… - … Research/Reviews in …, 2021 - Elsevier
Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the
United States after Down syndrome and are the most common head and neck congenital …

[HTML][HTML] Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities

TH Beaty, ML Marazita, EJ Leslie - F1000Research, 2016 - ncbi.nlm.nih.gov
Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which
combined represent the largest group of craniofacial malformations in humans with an …

Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity

Y Yu, X Zuo, M He, J Gao, Y Fu, C Qin, L Meng… - Nature …, 2017 - nature.com
Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-phenotype of non-
syndromic orofacial clefts (NSOFC), which are the most common craniofacial birth defects in …

A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24. 2, 17q23 and 19q13

EJ Leslie, JC Carlson, JR Shaffer… - Human molecular …, 2016 - academic.oup.com
Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate
(CL/P), are among the most common birth defects in humans, affecting approximately 1 in …

Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or …

EJ Leslie, JC Carlson, JR Shaffer, A Butali, CJ Buxó… - Human genetics, 2017 - Springer
Nonsyndromic orofacial clefts (OFCs) are a heterogeneous group of common craniofacial
birth defects with complex etiologies that include genetic and environmental risk factors …

Decoding the human face: progress and challenges in understanding the genetics of craniofacial morphology

S Naqvi, H Hoskens, F Wilke… - Annual review of …, 2022 - annualreviews.org
Variations in the form of the human face, which plays a role in our individual identities and
societal interactions, have fascinated scientists and artists alike. Here, we review our current …

Revisiting the embryogenesis of lip and palate development

NL Hammond, MJ Dixon - Oral Diseases, 2022 - Wiley Online Library
Clefts of the lip and palate (CLP), the major causes of congenital facial malformation
globally, result from failure of fusion of the facial processes during embryogenesis. With a …

A genome-wide association study of nonsyndromic cleft palate identifies an etiologic missense variant in GRHL3

EJ Leslie, H Liu, JC Carlson, JR Shaffer… - The American Journal of …, 2016 - cell.com
Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately
half of infants with CP have a syndromic form, exhibiting other physical and cognitive …

Genetics and signaling mechanisms of orofacial clefts

K Reynolds, S Zhang, B Sun, MA Garland… - Birth defects …, 2020 - Wiley Online Library
Craniofacial development involves several complex tissue movements including several
fusion processes to form the frontonasal and maxillary structures, including the upper lip and …

New insights into craniofacial malformations

SRF Twigg, AOM Wilkie - Human molecular genetics, 2015 - academic.oup.com
Abstract Development of the human skull and face is a highly orchestrated and complex
three-dimensional morphogenetic process, involving hundreds of genes controlling the …