Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development
Katie Ayers, Jocelyn van den Bergen, Gorjana Robevska, Nurin Listyasari, Jamal Raza, Irum Atta, Stefan Riedl, Karen Rothacker, Catherine Choong, Sultana M H Faradz, Andrew Sinclair
Journal of Medical Genetics Jul 2019, 56 (7) 434-443; DOI: 10.1136/jmedgenet-2018-105893