Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing
نویسندگان
چکیده
منابع مشابه
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is mainly associated with myosin, heavy chain 7 (MYH7) and myosin binding protein C, cardiac (MYBPC3) mutations. In order to better explain the clinical and genetic heterogeneity in HCM patients, in this study, we implemented a target-next generation sequencing (NGS) assay. An Ion AmpliSeq™ Custom Panel for the enrichment of 19 genes, of which 9 of these did no...
متن کاملPrenatal detection of orofacial clefts
Orofacial clefts are one of the most common congenital anomalies. The incidence is approximately 1 : 500 to 1 : 550 births [1]. The group of orofacial anomalies is heterogeneous. It comprises “typical” orofacial clefts ((cleft lip (CL), cleft lip and cleft palate (CLP) and cleft palate only (CP)) and “atypical” clefts (median, transversal, oblique and other Tessier’s types of facial clefts)[1]....
متن کامل[Prenatal detection of orofacial clefts].
Orofacial clefts are one of the most common congenital anomalies. The incidence is approximately 1 : 500 to 1 : 550 births [1]. The group of orofacial anomalies is heterogeneous. It comprises “typical” orofacial clefts ((cleft lip (CL), cleft lip and cleft palate (CLP) and cleft palate only (CP)) and “atypical” clefts (median, transversal, oblique and other Tessier’s types of facial clefts)[1]....
متن کاملRisk prediction models for oral clefts allowing for phenotypic heterogeneity
Oral clefts are common birth defects that have a major impact on the affected individual, their family and society. World-wide, the incidence of oral clefts is 1/700 live births, making them the most common craniofacial birth defects. The successful prediction of oral clefts may help identify sub-population at high risk, and promote new diagnostic and therapeutic strategies. Nevertheless, devel...
متن کاملAn assessment of orofacial clefts in Tanzania
BACKGROUND Clefts of the lip (CL), the palate (CP), or both (CLP) are the most common orofacial congenital malformations found among live births, accounting for 65% of all head and neck anomalies. The frequency and pattern of orofacial clefts in different parts of the world and among different human groups varies widely. Generally, populations of Asian or Native American origin have the highest...
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ژورنال
عنوان ژورنال: Birth Defects Research
سال: 2017
ISSN: 2472-1727
DOI: 10.1002/bdr2.23605