ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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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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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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