The triad of ichthyosis follicularis, atrichia, and photophobia with or without Bresheck syndrome (IFAP1; MIM#308205) defines a rare genodermatosis first recognized at the beginning of the last century [1]. Recently, the IFAP1 syndrome has been associated with deleterious variants in the MBTPS2 gene (MIM*300294), mapping on the X chromosome and encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2), involved in regulation of cholesterol homeostasis and control of endoplasmic [...]
Defining the clinical spectrum of ichthyosis follicularis, atrichia and photophobia clinical association type 1 (IFAP1)
Fortugno, Paola;
2023-01-01
Abstract
The triad of ichthyosis follicularis, atrichia, and photophobia with or without Bresheck syndrome (IFAP1; MIM#308205) defines a rare genodermatosis first recognized at the beginning of the last century [1]. Recently, the IFAP1 syndrome has been associated with deleterious variants in the MBTPS2 gene (MIM*300294), mapping on the X chromosome and encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2), involved in regulation of cholesterol homeostasis and control of endoplasmic [...]File in questo prodotto:
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