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Quoted phrase not found in phrase index: "IFAP syndrome 2"
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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man.
Keyvani K, Paulus W, Traupe H, Kiesewetter F, Cursiefen C, Huk W, Raab K, Orth U, Rauch A, Pfeiffer RA. Keyvani K, et al. Am J Med Genet. 1998 Jul 24;78(4):371-7. doi: 10.1002/(sici)1096-8628(19980724)78:4<371::aid-ajmg13>3.0.co;2-f. Am J Med Genet. 1998. PMID: 9714442 Review.
The syndrome of ichthyosis follicularis, alopecia, and photophobia (IFAP) is an uncommon neuroichthyosis described in only 10 males so far. ...Cytogenetic and molecular studies did not uncover deletions in either Xp22.2 to 3 or in Xq27.3 to qter....
The syndrome of ichthyosis follicularis, alopecia, and photophobia (IFAP) is an uncommon neuroichthyosis described in only 10 …
Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.
Lim PJ, Marcionelli G, Srikanthan P, Ndarugendamwo T, Pinner J, Rohrbach M, Giunta C. Lim PJ, et al. Front Endocrinol (Lausanne). 2023 May 25;14:1195704. doi: 10.3389/fendo.2023.1195704. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37305034 Free PMC article.
The interpretation of genetic variants in MBTPS2 is complicated by the gene's pleiotropic properties; MBTPS2 variants can also cause the dermatological conditions Ichthyosis Follicularis, Atrichia and Photophobia (IFAP), Keratosis Follicularis Spinulosa Decalvans (KFSD) an …
The interpretation of genetic variants in MBTPS2 is complicated by the gene's pleiotropic properties; MBTPS2 variants can also cause the der …
A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.
Tang L, Liang J, Wang W, Yu L, Yao Z. Tang L, et al. J Am Acad Dermatol. 2011 Apr;64(4):716-22. doi: 10.1016/j.jaad.2010.02.045. J Am Acad Dermatol. 2011. PMID: 21315478
BACKGROUND: Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare congenital disorder. Missense mutations in the membrane-bound transcription factor protease, site 2 (MBTPS2) gene have recently been identified in patients with IFAP …
BACKGROUND: Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare congenital disorder. Missense mutatio …