Work

A rare case of LORICRIN gene c.684dup mutation associated with Vohwinkel syndrome in a Turkish patient, in silico analysis and literature review

Year: 2025

Type: article

Study design: Case Report

Source: Molecular Biology Reports

DOI: 10.1007/s11033-025-11257-w

Authors: Cuneyd Yavas, Emir Nekay, Asmaa Abuaisha, Yusuf Seflekci, Kubra Turegun, Zafer Turkoglu, Eriscan Melih Kirsoy, Mustafa Dogan

Institutions: Biruni University, Yıldız Technical University, Sağlık Bilimleri Üniversitesi, İstanbul Başakşehir Çam ve Sakura Şehir Hastanesi

Language: English

Topic: Skin and Cellular Biology Research

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4416734324

FWCI:

Cites: 42

Cited by:

Related to: 10