Work

Discovery of a novel hemizygous c.375_389del variant in the MBTPS2 gene in a male patient with keratosis follicularis spinulosa decalvans

Year: 2026

Type: article

Study design: Case Report

Source: Clinical and Experimental Dermatology

DOI: 10.1093/ced/llag189

Authors: Yunus Ozcan, Sevgi İlçin, Mustafa Dogan, Belkız Uyar

Institutions: Düzce Üniversitesi, İstanbul Başakşehir Çam ve Sakura Şehir Hastanesi

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7157864095

FWCI:

Cites: 3

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