Results 111 to 120 of about 50,074,769 (205)

Complex 45,X/46,XY Isochromosome Yp Mosaicism Presenting With Atypical Genitalia and an Incidental CYP21A2 Mutation: A Case Report. [PDF]

Cureus
Alqanea FK, Almusalam MM, Amer R, Boustros L, Nasef M.   +4 more
europepmc   +1 more source

Case Report: Mixed gonadal dysgenesis with Müllerian remnants mimicking a prostatic utricle in a child with 45,X/46,XY/47,XYY mosaicism. [PDF]

Front Pediatr
Zhang S, Zhou C, Liu D.
europepmc   +1 more source

Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the <i>NR5A1</i> gene: a case report. [PDF]

Front Pediatr
Martinková J, Mihulová M, Balaščaková M, Trachta J, Křepelová A.   +4 more
europepmc   +1 more source

Extended genotype-phenotype spectrum of 17α-hydroxylase/17,20-lyase deficiency: a nine-case series featuring a novel mutation, suspected TART-like lesions, and multisystem involvement. [PDF]

Front Endocrinol (Lausanne)
Chong H, Fu Y, Zhang X, Zhang Y, Yan X, Pi Y.   +5 more
europepmc   +1 more source

45,X/46,XY Mixed Gonadal Dysgenesis [PDF]

, 2020
openaire   +3 more sources

Novel and Known <i>DHX37</i> Variants in 46,XY DSD: Expanding the Genotypic and Phenotypic Spectrum. [PDF]

Genes (Basel)
Xu X, Wu X, Chen S, Miao H, Fang K, Wu D, Zhang Y, Yang X.   +7 more
europepmc   +1 more source

Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis [PDF]

Human Mutation, 1998
F J, Cameron, M J, Smith, G L, Warne, A H, Sinclair   +3 more
openaire   +2 more sources

Swyer syndrome complicated by rapidly progressive invasive ovarian dysgerminoma with bladder and rectal direct invasion: a rare case report. [PDF]

Front Oncol
Feng Y, Chen X, Xu Y, Xia M, Xie T, Yang R, Du K, Chen Y.   +7 more
europepmc   +1 more source

Kidney transplantation outcomes in children with WT1-associated kidney disease: a single-center cohort study. [PDF]

Front Pediatr
Abasi R, Zhilang L, Mengjie J, Longshan L, Xiaoyun J, Yuxin P.   +5 more
europepmc   +1 more source

Post-translational modification of proteins in the human testis development pathway. [PDF]

Hum Reprod Update
Idris FP, Ferreira LGA, Houston B, Humphrey SJ, Sinclair AH, Ayers KL.   +5 more
europepmc   +1 more source