唇腭裂的遗传病因

IF 0.7 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY AIMS Molecular Science Pub Date : 2020-09-07 DOI:10.3934/MOLSCI.2020016
Aneela Khan, C. Prashanth, N. Srinath
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引用次数: 11

摘要

对人类的遗传学研究表明,伴有或不伴有腭裂的唇腭裂(CL/P)具有不同的遗传背景,可能还有影响这些畸形的环境因素。CL/P是颅面区最常见的先天性出生缺陷之一,病因复杂,涉及多种遗传因素、环境因素和基因环境相互作用。出生时有这些缺陷的儿童会遇到各种困难,如言语、听力、进食困难和其他心理社会问题,他们的康复需要多学科的方法。本文简要介绍了CL/P、流行病学和一般概念、病因以及不同人类遗传学研究、动物模型和其他表达研究提出的与非综合征性CL/P(NSCL/P)病因相关的基因。
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Genetic etiology of cleft lip and cleft palate
Genetic studies in humans have demonstrated that Cleft lip with or without cleft palate (CL/P) have a diverse genetic background and probably environmental factors influencing these malformations. CL/P is one of the most common congenital birth defects in the craniofacial region with complex etiology involving multiple genetic factors, environmental factors and gene-environment interaction. Children born with these defects suffer from various difficulties such as difficulty in speech, hearing, feeding and other psychosocial problems, and their rehabilitation involves a multidisciplinary approach. The article describes the brief introduction of CL/P, epidemiology and general concepts, etiological factors, and the genes implicated in the etiology of nonsyndromic CL/P (NSCL/P) as suggested by different human genetic studies, animal models, and other expression studies.
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来源期刊
AIMS Molecular Science
AIMS Molecular Science BIOCHEMISTRY & MOLECULAR BIOLOGY-
自引率
0.00%
发文量
4
审稿时长
5 weeks
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