Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant

We describe a rare clinical phenotype of CMT1-GS associated with a de novo variant of INF2. Our findings expand the phenotypic and genotypic spectrums of INF2-associated disorders.

Authors

Xianfa Li (ORCID: https://orcid.org/0000-0003-1904-6677)
Zejun Wu (ORCID: https://orcid.org/0000-0002-5891-2091)
Xuanli Tang
Yin Ding (ORCID: https://orcid.org/0009-0002-7348-4248)

Institutions

Zhejiang Chinese Medical University (CN)

Publication Details

Journal: BMC Nephrology
Published: 2024-11-28
DOI: https://doi.org/10.1186/s12882-024-03891-6
Primary Topic: Hereditary Neurological Disorders
Type: article
Field-Weighted Citation Impact: 0.00

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article

Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant

Xianfa Li, Zejun Wu, Xuanli Tang, Yin Ding

Nov 28, 2024

BMC Nephrology

Hereditary Neurological Disorders

article

Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant

Xianfa Li, Zejun Wu, Xuanli Tang, Yin Ding

November 28, 2024article en

Abstract

We describe a rare clinical phenotype of CMT1-GS associated with a de novo variant of INF2. Our findings expand the phenotypic and genotypic spectrums of INF2-associated disorders.

BMC NephrologyVol. 25(1)

Zhejiang Chinese Medical University (CN)

Openalex Percentile: Top 77%

Hereditary Neurological Disorders

DOI Open Access PDF OpenAlex

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Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant — Xianfa Li, Zejun Wu, et al. · BMC Nephrology (2024) | TGRS Research Map | TGRS