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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; ...
- ... 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
- ... 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 ...
- ... Demyer syndrome Hartsfield syndrome ... FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. Am J Med Genet A. 2014 Sep; ...
- ... syndrome 2 Rhabdoid tumor ... prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. Fam Cancer. 2016 Jan;15(1):123- ...
- ... typical male chromosome pattern (46,XY), they have gonadal dysgenesis, in which external genitalia ... Frasier syndrome ...
- Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare condition that is fatal in the first year of life; its major features include abnormalities ...