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- [4] Novel MBTPS2 mutation causes a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome in a Chinese pedigree JOURNAL OF DERMATOLOGY, 2019, 46 (04): : E126 - E128
- [5] A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (08):
- [7] Deep phenotyping of ichthyosis follicularis with atrichia and photophobia syndrome associated with MBTPS2 mutations JOURNAL OF DERMATOLOGY, 2020, 47 (03): : E87 - E88
- [9] An intronic splice-site variant in MBTPS2 underlies ichthyosis follicularis with atrichia and photophobia syndrome JOURNAL OF DERMATOLOGY, 2023, 50 (05): : 715 - 719