☆ 4.5 Article

Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN

CLINICAL AND EXPERIMENTAL DERMATOLOGY (2023)

Update of recent findings in genetic hair disorders

Ryota Hayashi et al.

Summary: Genetic hair disorders are relatively common in East Asia, particularly in Japan, with many patients identified with various genetic causes. It is crucial for dermatologists to understand these disorders, as the findings can contribute to uncovering the mechanisms of hair follicle morphogenesis and development in humans.

JOURNAL OF DERMATOLOGY (2022)

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Article Dermatology

Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp

Jaap J. A. J. van der Velden et al.

JOURNAL OF DERMATOLOGY (2020)

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Letter Dermatology

A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family

H. Huang et al.

CLINICAL AND EXPERIMENTAL DERMATOLOGY (2018)

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Article Genetics & Heredity

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

Vinzenz Oji et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

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Article Genetics & Heredity

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

E Levy-Nissenbaum et al.

NATURE GENETICS (2003)

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Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN

相关参考文献

Update of recent findings in genetic hair disorders

Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp

A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

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