A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome

ConclusionThis study demonstrated a novelMBTPS2 mutation in a patient with IFAP syndrome and thus expands the knownMBPTS2 molecular repertoire.

Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Yanyun Jiang, Hongzhong Jin, Yueping Zeng Tags: CLINICAL REPORT Source Type: research