Functional validation of a novel PBX1 missense variant in a 46,XY girl

Altogether, our results demonstrated the deleterious functional consequences of the rare PBX1 p.R237T variant identified in Taiwanese proband with 46,XY DSD.

Authors

Publication Details

Journal
Sexual Development
Published
2026-02-26
DOI
https://doi.org/10.1159/000550575
Primary Topic
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Type
article
Field-Weighted Citation Impact
0.00
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article

Functional validation of a novel PBX1 missense variant in a 46,XY girl

Meng‐Che Tsai, Yen-Yin Chou, Yun-Han Weng, Peng-Chieh Chen et al.
Sexual Development
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
article

Functional validation of a novel PBX1 missense variant in a 46,XY girl

Meng‐Che Tsai, Yen-Yin Chou, Yun-Han Weng, Peng-Chieh Chen, Yi-Chieh Wang, Kung-Chao Chang
article en

Abstract

Altogether, our results demonstrated the deleterious functional consequences of the rare PBX1 p.R237T variant identified in Taiwanese proband with 46,XY DSD.

Sexual Development
Gender equality
Openalex Percentile: Top 40%
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
DOISourceOpenAlex
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