作者
Luciano Abreu Brito, Joanna Goes Castro Meira, Gerson Shigeru Kobayashi, Maria Rita Passos-Bueno
发表日期
2012/11/1
期刊
Plastic surgery international
卷号
2012
出版商
Hindawi Publishing Corporation
简介
Cleft lip or palate (CL/P) is a common facial defect present in 1 : 700 live births and results in substantial burden to patients. There are more than 500 CL/P syndromes described, the causes of which may be single‐gene mutations, chromosomopathies, and exposure to teratogens. Part of the most prevalent syndromic CL/P has known etiology. Nonsyndromic CL/P, on the other hand, is a complex disorder, whose etiology is still poorly understood. Recent genome‐wide association studies have contributed to the elucidation of the genetic causes, by raising reproducible susceptibility genetic variants; their etiopathogenic roles, however, are difficult to predict, as in the case of the chromosomal region 8q24, the most corroborated locus predisposing to nonsyndromic CL/P. Knowing the genetic causes of CL/P will directly impact the genetic counseling, by estimating precise recurrence risks, and the patient …
引用总数
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学术搜索中的文章
LA Brito, JGC Meira, GS Kobayashi, MR Passos-Bueno - Plastic Surgery International, 2012