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

Authors

Joel J. Hughes
Ebba Alkhunaizi
Paul Kruszka
Louise C. Pyle
Dorothy K. Grange
Seth I. Berger, George Washington University
Katelyn K. Payne
Diane Masser-Frye
Tommy Hu
Michelle R. Christie
Nancy J. Clegg
Joshua L. Everson
Ariel F. Martinez
Laurence E. Walsh
Emma Bedoukian
Marilyn C. Jones
Catharine Jean Harris
Korbinian M. Riedhammer
Daniela Choukair
Patricia Y. Fechner
Meilan M. Rutter
Sophia B. Hufnagel
Maian Roifman
Gad B. Kletter
Emmanuele Delot
Eric Vilain
Robert J. Lipinski
Chad M. Vezina
Maximilian Muenke
David Chitayat

Document Type

Journal Article

Publication Date

1-2-2020

Journal

American Journal of Human Genetics

Volume

106

Issue

1

Inclusive Pages

121-128

DOI

10.1016/j.ajhg.2019.12.004

Comments

Epub 2019 Dec 26

APA Citation

Hughes, J. J., Alkhunaizi, E., Kruszka, P., Pyle, L. C., Grange, D. K., Berger, S. I., Payne, K. K., Masser-Frye, D., Hu, T., Christie, M. R., Clegg, N. J., Everson, J. L., Martinez, A. F., Walsh, L. E., Bedoukian, E., Jones, M. C., Harris, C. J., Riedhammer, K. M., Choukair, D., Fechner, P. Y., Rutter, M. M., Hufnagel, S. B., Roifman, M., Kletter, G. B., Delot, E., Vilain, E., Lipinski, R. J., Vezina, C. M., Muenke, M., & Chitayat, D. (2020). Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.. American Journal of Human Genetics, 106 (1). http://dx.doi.org/10.1016/j.ajhg.2019.12.004

Peer Reviewed

1