| Title: |
Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations |
| Authors: |
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 |
| Source: |
Yearbook of Paediatric Endocrinology ; ISSN 1662-4009 |
| Publisher Information: |
Bioscientifica |
| Publication Year: |
2020 |
| Document Type: |
article in journal/newspaper |
| Language: |
unknown |
| DOI: |
10.1530/ey.17.6.9 |
| Availability: |
https://doi.org/10.1530/ey.17.6.9; http://www.espeyearbook.org/ey/0017/ey0017.6-9.htm |
| Accession Number: |
edsbas.54B8A588 |
| Database: |
BASE |