Novel variant in WT1 gene associated with MGD and unique kidney disease phenotype

被引：0

作者：

Heba A. Hassan ^{[1
]}

Inas Mazen ^{[4
]}

Mona K. Mekkawy ^{[3
]}

Aya Elaidy ^{[4
]}

Alaa Kamel ^{[2
]}

Mona L. Essawi ^{[4
]}

机构：

[1] Human Genetics & Genome Research Institute,Department of Medical Molecular Genetics

[2] National Research Centre,Department of Human Cytogenetics

[3] Human Genetics & Genome Research Institute,Department of Clinical Genetics

[4] National Research Centre,Center of Excellence of Human Genetics

[5] Human Genetics & Genome Research Institute,undefined

[6] National Research Centre,undefined

[7] National Research Centre,undefined

来源：

Journal of Rare Diseases | / 4卷 / 1期

关键词：

gene; Mixed gonadal dysgenesis; 46; XY DSD; Ureteropelvic junction obstruction; Exome sequencing; FISH;

D O I：

10.1007/s44162-025-00070-5

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摘要：

引用