Novel MBTPS2 mutation causes a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome in a Chinese pedigree.

J Dermatol

Department of Dermatology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China.

Published: April 2019

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.14660DOI Listing

Publication Analysis

Top Keywords

novel mbtps2
4
mbtps2 mutation
4
mutation mild
4
mild phenotype
4
phenotype ichthyosis
4
ichthyosis follicularis
4
follicularis atrichia
4
atrichia photophobia
4
photophobia syndrome
4
syndrome chinese
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!