Results 121 to 130 of about 1,721 (201)

A novel variant leads to WT1-related nephrotic syndrome and differences of sex development: a case report. [PDF]

Front Pediatr
Gao S, Wang D, Ding X, Bai C, Nie N, Chang H, Zhang R, Liu J, Zhang Q, Liu L, Lin Y.   +10 more
europepmc   +1 more source

Swyer syndrome in a Syrian female: A rare case report. [PDF]

J Int Med Res
Alhallak S, Alabed A, Khabazeh A, Alwannous K.   +3 more
europepmc   +1 more source

Urological management in a pediatric patient with mixed gonadal dysgenesis. [PDF]

Urol Case Rep
Chipa Beizaga WM, Orbegoso Celis LJ, Torres Marigorda BJ, Aguilar Ulloque MM, García Murga KN, Linares Vega V, Imán Izquierdo FJ, Aquino-Ortega R, Del Valle-Mendoza J, Silva-Caso WG.   +9 more
europepmc   +1 more source

Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report. [PDF]

Exp Ther Med
Uyama T, Koh I, Komoshita T, Matsushima A, Ohara R, Nomura A, Enokizono Y, Sato Y, Nakamoto K, Morioka H, Oomori Y, Teraoka Y, Nosaka S, Tomono K, Sekine M, Yamazaki T, Mukai Y, Banno K, Kurahashi H, Kudo Y.   +19 more
europepmc   +1 more source

Prenatal Diagnosis of Turner Syndrome Mosaicism: A Case Report. [PDF]

Cureus
Abulatan I, Mbara NJ, Fakoya AO.
europepmc   +1 more source

Clinical Spectrum, Surgical Management, and Outcomes of <i>NR5A1</i>-Related 46,XY Differences of Sex Development: A Narrative Review. [PDF]

Medicina (Kaunas)
Vicario S, Escolino M, Esposito G, Porcaro M, Di Mase R, Azizoglu M, Esposito C.   +6 more
europepmc   +1 more source

Pathogenic germline variations and cancer risks in pediatric patients referred for genetic testing. [PDF]

Nat Med
Wang H, Dong X, Xiao F, Li G, Lu Y, Qiao M, Wu B, Ni Q, Yan K, Li Q, Yin Z, Yang L, Chen D, Chen L, Kang W, Wei Q, Tao L, Cheng G, Wang L, Li K, Shen C, Wang S, Xu X, Yang M, Liu F, Li H, Zhang K, Zhou W, International Consortium in Digital Twins in Healthcare and Medicine.   +28 more
europepmc   +1 more source

Pure 46, XY gonadal dysgenesis and 46, XY complete androgen insensitivity syndrome: A case report. [PDF]

Medicine (Baltimore)
Yu T, Liu L.
europepmc   +1 more source