期刊
SEXUAL DEVELOPMENT
卷 10, 期 5-6, 页码 313-325出版社
KARGER
DOI: 10.1159/000452637
关键词
Ambiguous genitalia; Disorder of sex development; Gonadal dysgenesis; Mutation
资金
- program Actions Concertees Inter-pasteuriennes (ACIP)
- EuroDSD in the European Community's Seventh Framework Programme FP7 [201444, 295097]
- EU [FP7-INCO-2011-6]
- Franco-Egyptian AIRD-STDF grant
- Agence Nationale de la Recherche (Laboratoire d'Excellence Revive)
In this review we will consider the gene mutations responsible for the non-syndromic forms of disorders of sex development (DSD) and how recent genetic findings are providing insights into the mechanism of sex determination. High-throughput sequencing technologies are having a major impact on our understanding of the genetic basis of rare human disorders, including DSD. The study of human DSD is progressively revealing subtle differences in the genetics of the sex-determining system between the mouse and the human. This plasticity of the sex-determining pathway is apparent in (a) the difference in phenotypes in human and mouse associated with the same gene, (b) the different gene regulatory mechanisms between human and mouse, and finally (c) the different and unexpected reproductive phenotypes seen in association with mutations in well-studied sex-determining genes. (C) 2016 S. Karger AG, Basel
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