Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
PPP1R12A功能缺失变异：从孤立性性别逆转到全前脑畸形谱系和泌尿生殖系统畸形
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.12.004
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
