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ey0017.6-9 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.9. Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

JJ Hughes , E Alkhunaizi , P Kruszka , LC Pyle , DK Grange , SI Berger , KK Payne , D Masser-Frye , T Hu , MR Christie , NJ Clegg , JL Everson , AF Martinez , LE Walsh , E Bedoukian , MC Jones , CJ Harris , KM Riedhammer , D Choukair , PY Fechner , MM Rutter , SB Hufnagel , M Roifman , GB Kletter , E Delot , E Vilain , RJ Lipinski , CM Vezina , M Muenke , D Chitayat

To read the full abstract: Am J Hum Genet. 2020, Jan 2; 106: 121-8. doi: https://www.cell.com/ajhg/pdf/S0002-9297(19)30468-9.pdfProtein phosphatase 1, regulatory subunit 12a (PPP1R12A) is an important developmental factor involved in cell migration, adhesion, and morphogenesis. It is involved in the formation of myosin phosphatase and is regulated by phosphorylation.<p cla...

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ey0016.6-12 | DSD Reviews | ESPEYB16

6.12. New technologies to uncover the molecular basis of disorders of sex development

H Barseghyan , EC Delot , E Vilain

Mol Cell Endocrinol. 2018 Jun 15;468:6069.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 todays technologies in genetics and the limitations are summarized in this r...

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ESPE Yearbook of Paediatric Endocrinology

6.9. Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

6.12. New technologies to uncover the molecular basis of disorders of sex development

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