2022
DOI: 10.1530/eje-21-0910
|View full text |Cite
|
Sign up to set email alerts
|

Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

Abstract: Context Homozygous and heterozygous variants in PPP2R3C are associated with syndromic 46,XY complete gonadal dysgenesis (Myo-Ectodermo-Gonadal Dysgenesis (MEGD) syndrome), and impaired spermatogenesis, respectively. This study expands the role of PPP2R3C in the aetiology of gonadal dysgenesis (GD). Method We sequenced the PPP2R3C gene in four new patients from three unrelated families. The clinical, laboratory, and molecular characteristics were investigated. We have also determined the requirement for Ppp2r… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1

Citation Types

0
1
0

Year Published

2022
2022
2024
2024

Publication Types

Select...
2

Relationship

0
2

Authors

Journals

citations
Cited by 2 publications
(1 citation statement)
references
References 20 publications
0
1
0
Order By: Relevance
“…Thirteen 46, XY DSD patients had been reported in three articles previously ( Guran et al, 2019 ; Cicek et al, 2021 ; Altunoglu et al, 2022 ). All the patients came from the consanguineous marriage and had been identified as homozygous PPP2R3C variants.…”
Section: Resultsmentioning
confidence: 99%
“…Thirteen 46, XY DSD patients had been reported in three articles previously ( Guran et al, 2019 ; Cicek et al, 2021 ; Altunoglu et al, 2022 ). All the patients came from the consanguineous marriage and had been identified as homozygous PPP2R3C variants.…”
Section: Resultsmentioning
confidence: 99%