Work

Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review

Year: 2024

Type: article

Study design: Case Report

Source: Brain and Development

DOI: 10.1016/j.braindev.2024.104313

Authors: Cüneyd Yavas, Mustafa Dogan, Bilge Ozgor, Ekrem Akbulut, Recep Eroz

Institutions: Biruni University, İstanbul Başakşehir Çam ve Sakura Şehir Hastanesi, Inonu University, Malatya Turgut Özal Üniversitesi, Turgut Özal University, Aksaray University

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4405585064

FWCI: 0.939

Cites: 64

Cited by: 6

Related to: 10