@article{mazen:pasteur-03263623, TITLE = {{Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development}}, AUTHOR = {Mazen, Inas and Mekkawy, Mona and Kamel, Alaa and Essawi, Mona and Hassan, Heba and Abdel-Hamid, Mohamed and Amr, Khalda and Soliman, Hala and El-Ruby, Mona and Torky, Ahmed and El Gammal, Mona and Elaidy, Aya and Bashamboo, Anu and Mcelreavey, Ken}, URL = {https://pasteur.hal.science/pasteur-03263623}, JOURNAL = {{American Journal of Medical Genetics Part A}}, PUBLISHER = {{Wiley}}, VOLUME = {185}, NUMBER = {6}, PAGES = {1666-1677}, YEAR = {2021}, MONTH = Jun, DOI = {10.1002/ajmg.a.62129}, KEYWORDS = {46 ; XY DSD ; disorders of sex development ; sex chromosomal abnormalities ; syndromic DSD ; whole exome sequencing}, HAL_ID = {pasteur-03263623}, HAL_VERSION = {v1}, }