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

Subjects

Subjects :

*MISSENSE mutation
*PHENOTYPES
*SYNDROMES

Details

Language :

English

ISSN :

09231811

Volume :

112

Issue :

3

Database :

Academic Search Index

Journal :

Journal of Dermatological Science

Publication Type :

Academic Journal

Accession number :

174318034

Full Text :

https://doi.org/10.1016/j.jdermsci.2023.10.004