Results 1 -
10
of
20
for
Gonadal disorder
- ... Jin H, Lu X. Swyer syndrome, 46,XY gonadal dysgenesis, a sex reversal disorder with dysgerminoma: a case report and literature review. ...
- ... Savarirayan R, Zacharin MR. IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. J Pediatr. 2004 Feb; ...
- ... have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. These individuals have one altered DHH gene ...
- ... have been identified in people with 46,XY disorder of sex development, also known as partial gonadal dysgenesis. Affected individuals may have external genitalia that ...
- ... also been identified in people with 46,XY disorder of sex development, which is also known as partial gonadal dysgenesis. These variants likely have similar but less ...
- ... 5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism. Am J Med Genet A. 2017 Jan;173(1):264-267. doi: 10.1002/ajmg.a.37999. Epub 2016 Oct 18. Citation on PubMed
- ... Indian 46,XY females with sex reversal and gonadal tumour formation. Mol Hum Reprod. 2004 Jul;10(7):521-6. doi: 10.1093/molehr/gah071. Epub 2004 May 21. Citation on PubMed Sreenivasan R, Gonen N, Sinclair A. SOX Genes and Their Role in Disorders of Sex Development. Sex Dev. 2022;16(2- ...
- ... and hyperandrogenism Müllerian aplasia National Organization for Rare Disorders (NORD) MULLERIAN APLASIA AND HYPERANDROGENISM PubMed Bernard P, Harley VR. Wnt4 action in gonadal development and sex determination. Int J Biochem Cell ...
- ... Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance Gonadal dysgenesis, XX type, with deafness Ovarian ... (NORD) PERRAULT SYNDROME 1; PRLTS1 PERRAULT SYNDROME 4; ...
- ... of these organs leads to diffuse glomerulosclerosis and gonadal dysgenesis, which are characteristic ... DDS Drash syndrome Nephropathy, Wilms tumor, and genital ...