Application of high ‐resolution array platform for genome‐wide copy number variation analysis in patients with nonsyndromic cleft lip and palate

ConclusionsConsidering the importance to NSCLP, the microdeletions that encompass MSX1, microduplications over TERT, MIR4457, CLPTM1L, and microduplication of PHF8 have been identified as small CNVs related to sequence variants associated with oral clefts susceptibility. Our findings represent a preliminary study on the clinical significance of small CNVs and their relationship with genes implicated in NSCLP.

Source: Journal of Clinical Laboratory Analysis - March 7, 2018 Category: Laboratory Medicine Authors: Heglayne Pereira Vital Silva, Gustavo Henrique de Medeiros Oliveira, Marcela Abbott Galv ão Ururahy, João Felipe Bezerra, Karla Simone Costa Souza, Raul Hernandes Bortolin, André Ducati Luchessi, Vivian Nogueira Silbiger, Valéria Morgiana Gualberto Du Tags: RESEARCH ARTICLE Source Type: research