Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies

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Bibliographic Details
Published in:Journal of dermatological science 2023-12, Vol.112 (3), p.166-169
Main Authors: Caengprasath, Natarin, Nizon, Mathilde, Panchaprateep, Ratchathorn, Cogne, Benjamin, Cuinat, Silvestre, Auburt, Hélène, Jonca, Nathalie, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Format: Article
Language:English
Subjects:
Alopecia - genetics
Humans
Ichthyosis - genetics
Metalloendopeptidases - genetics
Mutation, Missense
Syndrome
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ISSN:0923-1811
1873-569X
DOI:10.1016/j.jdermsci.2023.10.004