Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate
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- 作者：Johanna Klamt ; Andrea Hofmann ; Anne C. Bö ; hmer ; Ann-Kathrin Hoebel ; Lina Gö ; lz ; Jessica Becker ; Alexander M. Zink ; Markus Draaken ; Alexander Hemprich ; Martin Scheer ; Gü ; l Schmidt ; Markus Martini ; Michael Knapp ; Elisabeth Mangold ; Franziska Degenhardt and Kerstin U. Ludwig
- 刊名：Birth Defects Research Part A: Clinical and Molecular Teratology
- 出版年：2016
- 出版时间：September 2016
- 年：2016
- 卷：106
- 期：9
- 页码：767-772
- 全文大小：218K
- ISSN：1542-0760
文摘
Nonsyndromic cleft with or without cleft palate (nsCL/P) is a common birth defect. Although genome-wide association studies (GWAS) have identified numerous risk variants, a considerable fraction of the genetic heritability remains unknown. The aim of the present study was to replicate a previous finding that de novo deletions in a 62 kb region of chromosome 7p14 are a risk factor for nsCL/P, using an independent cohort.