Role of ARHGAP29 nucleotide variants in the etiology of non-syndromic cleft lip with or without cleft palate.
نویسندگان
چکیده
منابع مشابه
modern surgical techniques in treatment of patients with cleft lip & cleft palate
چکیده ندارد.
15 صفحه اولVariation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate.
Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect. Genetic and environmental factors have been causally implicated and studies have begun to delineate genetic contributions. The Wnt genes are involved in regulating mid-face development and upper lip fusion and are therefore strong candidates for an etiological role in NSCLP. Furthermore, the clf1 region in A/...
متن کاملEvaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate.
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital malformations and has a multifactorial etiology. Findings in mice suggest that the v-ski sarcoma viral oncogene homolog (SKI) gene is a candidate gene for orofacial clefting. In humans, a significant association between rs2843159 within SKI and NSCL/P has been reported in patients from the ...
متن کاملDeleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes
Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of phenotypes. Nonsyndromic clefting has been shown to arise through complex interactions between genetic and environmental factors. However, there is increasing evidence...
متن کاملFOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.
Nonsyndromic orofacial clefts are a common complex birth defect caused by genetic and environmental factors and/or their interactions. A previous genome-wide linkage scan discovered a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22-q33. To identify the etiologic gene, we undertook an iterative and complementary fine mapping strategy using family-based CL/P samples from Col...
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ژورنال
عنوان ژورنال: Journal of Medical Science
سال: 2020
ISSN: 2353-9801,2353-9798
DOI: 10.20883/medical.e414