Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family

Int J Dermatol. 2019 Apr;58(4):493-496. doi: 10.1111/ijd.14129. Epub 2018 Jun 27.

Authors

Chong Chen¹, Chenyang Xu¹, Huanzheng Li¹, Manli Jia², Shaohua Tang^{1

2}

Affiliations

¹ Key Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
² Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, China.

PMID: 29951998
DOI: 10.1111/ijd.14129

No abstract available

Publication types

Case Reports

MeSH terms

Asian People / genetics
Genetic Diseases, X-Linked / diagnosis
Genetic Diseases, X-Linked / genetics*
Humans
Ichthyosis / diagnosis
Ichthyosis / genetics*
Male
Metalloendopeptidases / genetics*
Mutation, Missense
Pedigree
Skin Diseases, Genetic / diagnosis
Skin Diseases, Genetic / genetics*
Young Adult

Substances

Metalloendopeptidases
MBTPS2 protein, human

Supplementary concepts

Keratosis Follicularis Spinulosa Decalvans, X-Linked

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