Mutations of genes involved in sex development have been largely reported in the literature, but few data are available to evaluate the proportion of each gene defect in 46,XY DSD patients. We report molecular studies of a cohort of families. All pediatric endocrinologists, geneticians, and urologists of French DSD Network have contributed significantly to this work. This is a preview of subscription content, log in via an institution to check access.
Institutional subscriptions. You can also search for this author in PubMed Google Scholar. Correspondence to Yves Morel. Florida International University, S. Reprints and permissions. Morel, Y. In: New, M. Advances in Experimental Medicine and Biology, vol Springer, New York, NY. Published : 06 June Print ISBN : Online ISBN : Anyone you share the following link with will be able to read this content:.
Sorry, a shareable link is not currently available for this article. Provided by the Springer Nature SharedIt content-sharing initiative. Policies and ethics. Skip to main content. Abstract Mutations of genes involved in sex development have been largely reported in the literature, but few data are available to evaluate the proportion of each gene defect in 46,XY DSD patients. Access this chapter Log in via an institution.
Chapter EUR Softcover Book EUR Hardcover Book EUR Tax calculation will be finalised at checkout Purchases are for personal use only. Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes Article 26 March Acknowledgment The authors thank all clinicians who have sent DNA of their patients.
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