Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum
Milena Atique Tacla,
Matheus de Mello Copelli,
Eleonore Pairet
et al.
Abstract:Orofacial clefts (OC) are the most common birth defects in humans and approximately 30% of them form the group of syndromic orofacial clefts (SOCs). Microphthalmia/anophthalmia/coloboma spectrum (MAC) can be associated with OC, however the genetic etiologies of OC-MAC have been poorly characterized. This study describes genomic ndings among individuals with OC-MAC recorded in the Brazilian Database on Craniofacial Anomalies (BDCA). Chromosomal microarray analysis (CMA) and Whole exome sequencing (WES) were per… Show more
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