Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
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Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome type I is a rare, X-linked disorder resulting from pathogenic variants in MBTPS2. Here we report a Pakistani IFAP pedigree of three affected individuals harboring the recurrent MBTPS2 splice-sit... ...
