Genome‐wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes
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DOI: 10.1002/gepi.22447
Abstract: Nonsyndromic orofacial clefts (OFCs) are among the most common craniofacial birth defects worldwide, and known to exhibit phenotypic and genetic heterogeneity. Cleft lip plus cleft palate (CLP) and cleft lip only (CL) are commonly combined… read more here.
Keywords: family; orofacial cleft; genome wide; nonsyndromic orofacial ... See more keywords
Having a child with orofacial cleft: Initial reaction and psychosocial experiences of Ghanaian mothers
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DOI: 10.1016/j.ijans.2018.05.003
Abstract: Abstract Background Orofacial cleft are the most prevalent congenital deformity of the orofacial region. The birth of a child with orofacial cleft elicit emotional trauma in mothers. Objectives The study explored the reactions and psychosocial… read more here.
Keywords: psychosocial experiences; child orofacial; ghanaian mothers; cleft ... See more keywords
Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients.
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DOI: 10.1089/gtmb.2018.0207
Abstract: OBJECTIVE Nonsyndromic orofacial cleft (NSOFC) including cleft lip with or without cleft palate (CL±P) and cleft palate (CP) are multifactorial developmental disorders with both genetic and environmental etiological factors. In this study we investigated the… read more here.
Keywords: consanguinity; vax1 gene; nonsyndromic orofacial; association ... See more keywords
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing
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DOI: 10.1177/0022034516678829
Abstract: Common variants in interferon regulatory factor 6 (IRF6) have been associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P) as well as with tooth agenesis (TA). These variants contribute a small risk towards… read more here.
Keywords: novel irf6; irf6 mutations; cleft; detected orofacial ... See more keywords