Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

Title
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Authors
Keywords
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Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 106, Issue 1, Pages 121-128
Publisher
Elsevier BV
Online
2019-12-26
DOI
10.1016/j.ajhg.2019.12.004

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