[Genetic analysis of a child with Malan syndrome].

The novel de novo c.697+1G>A variant of the NFIX gene probably underlay the pathogenesis of the child, which may have caused the disease by leading to abnormal splicing.

Authors

Yunjia Li (ORCID: https://orcid.org/0000-0002-5728-9795)
Tao Liu
Baosong Wang (ORCID: https://orcid.org/0009-0004-3819-8996)
Lin Li
Meng Qin (ORCID: https://orcid.org/0000-0003-4025-6089)
Xuexi Zhang

Institutions

Linyi People's Hospital (CN)

Publication Details

Journal: PubMed
Published: 2024-11-10
DOI: https://doi.org/10.3760/cma.j.cn511374-20240621-00347
Primary Topic: Genomics and Rare Diseases
Type: article
Field-Weighted Citation Impact: 0.00

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article

[Genetic analysis of a child with Malan syndrome].

Yunjia Li, Tao Liu, Baosong Wang, Lin Li et al.

Nov 10, 2024

PubMed

Genomics and Rare Diseases

article

[Genetic analysis of a child with Malan syndrome].

Yunjia Li, Tao Liu, Baosong Wang, Lin Li, Meng Qin, Xuexi Zhang

November 10, 2024article en

Abstract

The novel de novo c.697+1G>A variant of the NFIX gene probably underlay the pathogenesis of the child, which may have caused the disease by leading to abnormal splicing.

PubMedVol. 41(11)

Linyi People's Hospital (CN)

Openalex Percentile: Top 77%

Genomics and Rare Diseases

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[Genetic analysis of a child with Malan syndrome]. — Yunjia Li, Tao Liu, et al. · PubMed (2024) | TGRS Research Map | TGRS