Testis formation in XX individuals resulting from novel pathogenic variants in Wilms tumor 1 (WT1) gene
نویسندگان
چکیده
On the search for a genetic cause 46,XX virilization due to testicular (TDSD) or ovotesticular DSD (OTDSD), 78 individuals were studied by whole exome sequencing. In 7 cases, heterozygous de novo variants found in 4th zinc finger (ZF4) of Wilms tumor 1 gene (WT1). Modelling these human granulosa cells and mice recapitulated phenotype.
منابع مشابه
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ژورنال
عنوان ژورنال: Yearbook of pediatric endocrinology
سال: 2021
ISSN: ['1662-3991', '1662-4009']
DOI: https://doi.org/10.1530/ey.18.6.2