A rare case of 46,XX gonadal dysgenesis, Mayer-Rokitansky-Kuster-Hauser syndrome, pituitary and thyroid hypoplasia. [PDF]
Ambachew R+6 more
europepmc +1 more source
AB0172 Turner syndrome and pure gonadal dysgenesis: a strong risk factor for osteopenia and osteoporosis [PDF]
Cristina Laguna Benetti‐Pinto+3 more
openalex +1 more source
Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review. [PDF]
Zhang W+7 more
europepmc +1 more source
A case of mixed gonadal dysgenesis(MGD)-with a review of MGD patients reported in Japan.
Noriyoshi Yamakita+5 more
openalex +2 more sources
Mixed Gonadal Dysgenesis Mimicking True Hermaphroditism [PDF]
Jae Duck Choi+2 more
openalex +1 more source
Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C. [PDF]
Cicek D+22 more
europepmc +1 more source
Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis [PDF]
Rjiba K+10 more
europepmc +1 more source
Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing. [PDF]
Zhang N+5 more
europepmc +1 more source