PMC10108828_01
Clinical and genetic data of a patient with ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. (A) Image of the 1-month-old patient. (B) Pedigree of the family showing the proband as an isolated case. (C) Image of the BAM file showing the region of the MBTPS2 variant (NM_015884:exon6:c.C727T:p.P243S) in the proband. (D) Sanger sequencing validated the MBTPS2 variant in the proband, and segregation analysis of family members determined that the variant segregates only with the affected phenotype.
1984-0462-rpp-41-e2022057-gf1.jpg
PMC10108828_01_1984-0462-rpp-41-e2022057-gf1.jpg
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Figure 1 presents the case and shows an image of the BAM file displaying the region of the MBTPS2 variant in the proband.