Developmental BiologybioRxivPreprint
Genetic, Genomic and Biophysical Case Study: Familial 46, XY Sex Reversal due to a Novel Inherited Mutation in Human Testis-Determining Factor SRY
Elisa Vaiani, Yen‐Shan Chen, Pablo Ramírez…·Michael Aaron Weiss
The paper describes a novel SRY mutation causing 46, XY sex reversal, showing its partial function and phenotypic effects in a family.
DOI 10.1101/2021.05.05.442859