[Genetic analysis of a child with pachygyria due to variant of ADGRG1 gen].

The c.781G>T (p.E261*) and c.1369A>C (p.S457R) compound heterozygous variants of the ADGRG1 gene probably underlay the pachygyria malformation in this child.

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Publication Details

Journal
PubMed
Published
2024-09-10
DOI
https://doi.org/10.3760/cma.j.cn511374-20230829-00096
Primary Topic
Testicular diseases and treatments
Type
article
Field-Weighted Citation Impact
0.00
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article

[Genetic analysis of a child with pachygyria due to variant of ADGRG1 gen].

Chuanlu Song, Jingyu Su
PubMed
Testicular diseases and treatments
article

[Genetic analysis of a child with pachygyria due to variant of ADGRG1 gen].

Chuanlu Song, Jingyu Su
article en

Abstract

The c.781G>T (p.E261*) and c.1369A>C (p.S457R) compound heterozygous variants of the ADGRG1 gene probably underlay the pachygyria malformation in this child.

PubMedVol. 41(9)
Qinzhou Maternity and Child Health Care Hospital (CN)
Openalex Percentile: Top 73%
Testicular diseases and treatments
DOISourceOpenAlex
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[Genetic analysis of a child with pachygyria due to variant of ADGRG1 gen]. — Chuanlu Song, Jingyu Su · PubMed (2024) | TGRS Research Map | TGRS