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Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD

delete2026-07-08
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PRE
AI
R
Rui Dong
C
Chen Liu
M
Min Gao
K
Kunkun Yu
L
Lei Zhang
X
Xiaochen Wang
K
Kaisheng Li *
H
Hongying Li *
K
Kaihui Zhang *
G
Guohua Liu *
DOI：10.1093/hmg/ddag055delete
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Abstract

Abstract

En 中文
Dual molecular diagnoses involving concurrent monogenic variants and imprinting disorders are increasingly recognized in complex phenotypes, yet systematic approaches to elucidate such convergence remain limited.

Journal

Human Molecular Genetics cover
Human Molecular Genetics
IF:
3.2
Papers:
1.1W
Citations:
3.5W

Organization

C
Children's Hospital Affiliated to Shandong University
Scholars:
38
Papers: 11
Citations: 0
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