ESPE Yearbook of Paediatric Endocrinology

Mol Cell Endocrinol. 2018 Jun 15;468:60–69.doi: 10.1016/j.mce.2018.04.003. PubMed PMID: 29655603Since the description of the first DSD gene, SRY, in the early 1990s (OMIM 480000), genetics has become a major player in research and clinical workup of DSD. The advances of today’s technologies in genetics and the limitations are summarized in this r...