Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Titel:
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Auteur:
Hughes, Joel J. Alkhunaizi, Ebba Kruszka, Paul Pyle, Louise C. Grange, Dorothy K. Berger, Seth I. Payne, Katelyn K. Masser-Frye, Diane Hu, Tommy Christie, Michelle R. Clegg, Nancy J. Everson, Joshua L. Martinez, Ariel F. Walsh, Laurence E. Bedoukian, Emma Jones, Marilyn C. Harris, Catharine Jean Riedhammer, Korbinian M. Choukair, Daniela Fechner, Patricia Y. Rutter, Meilan M. Hufnagel, Sophia B. Roifman, Maian Kletter, Gad B. Delot, Emmanuele Vilain, Eric Lipinski, Robert J. Vezina, Chad M. Muenke, Maximilian Chitayat, David