All individuals with variants in gene SREBF1

15 entries on 1 page. Showing entries 1 - 15.
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00303244 Fam1PatIII-3 PubMed: Wang 2020, Journal: Wang 2020 3-generation family, 4 affected (3F, M), unaffected non-carrier parents F - China - - - - - IFAP severe hypotrichosis; ichthyosis follicularis; photophobia, Meibomian gland dysfunction, keratitis, nystagmus, cataract, strabismus 1 4 Johan den Dunnen
00303245 Fam1PatIV-1 PubMed: Wang 2020, Journal: Wang 2020 daughter F - China - - - - - IFAP moderate hypotrichosis; ichthyosis follicularis; photophobia, Meibomian gland dysfunction, keratitis, nystagmus, cataract, strabismus 1 1 Johan den Dunnen
00303246 Fam2PatII-7 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 2 affected (2F), unaffected non-carrier parents F - China - - - - - IFAP atrichia; ichthyosis follicularis, mild periorificial erythema; photophobia, Meibomian gland dysfunction, keratitis, cataract, strabismus 1 2 Johan den Dunnen
00303247 Fam2PatIII-2 PubMed: Wang 2020, Journal: Wang 2020 daughter F - China - - - - - IFAP severe hypotrichosis; ichthyosis follicularis, mild periorificial erythema; photophobia, Meibomian gland dysfunction, keratitis, cataract, strabismus 1 1 Johan den Dunnen
00303248 Individual 3 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - IFAP atrichia; ichthyosis follicularis, nail dystrophy, periorificial hyperkeratosis, hyperkeratotic plaques on Achilles tendon, knee and dorsal hands; photophobia, Meibomian gland dysfunction, cataract 1 1 Johan den Dunnen
00303249 Individual 4 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - IFAP severe hypotrichosis; mild ichthyosis follicularis, angular cheilitis; photophobia, Meibomian gland dysfunction, cataract, xerophthalmia 1 1 Johan den Dunnen
00303250 Individual 5 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - IFAP atrichia; ichthyosis follicularis; photophobia 1 1 Johan den Dunnen
00303251 Individual 6 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected parents M - Germany - - - - - IFAP severe hypotrichosis, depigmented scalp hair variation in hair caliber; generalized ichthyosis follicularis; photophobia, recurrent conjunctivides, corneal keratosis and hypervascularisation 1 1 Johan den Dunnen
00303252 Individual 7 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected parents M - Congo - - - - - IFAP atrichia; ichthyosis follicularis mainly on the trunk; Meibomian gland dysfunction, recurrent keratoconjuncitivits, progressive corneal opacification and neovessels, vision loss 1 1 Johan den Dunnen
00303253 Individual 8 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected parents M - Italy - - - - - IFAP see paper; ... 1 1 Johan den Dunnen
00303254 Individual 9 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected parents M - United States African American - - - - IFAP extensive non-scarring atrichia of the temporal and parietal scalp; sparse short (<2 cm), black hairs preserved over the vertex and occiput; diffuse hypotrichosis of eyebrows and eyelids; ichthyosis follicularis with psoriaform plaques involving upper and lower extremities and scalp; widespread thorn-like punctate follicular projections; angular chelitis; photophobia, severe Meibomian gland dysfunction, corneal pannus, amblyopia 1 1 Johan den Dunnen
00303255 Individual 10 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Austria - - - - - IFAP moderate hypotrichosis; no ichthyosis follicularis; photophobia, Meibomian gland dysfunction, keratitis, congenital cataract 1 1 Johan den Dunnen
00303256 Individual 11 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents F - India - - - - - IFAP atrichia, mild facial hypertrichosis; recurrent oral and genital ulcers, gingival erosions; bilateral corneal ulcers and blue dot cataract in the right eye 1 1 Johan den Dunnen
00466711 Fam2Pat PubMed: Irurzun 2021 2-generation family, 1 affected, unaffected non-carrier parents M - Argentina - - - - - ? see paper; ..., keratoconjunctivitis, 15d-bilateral ocular discharge, conjunctivitis, lacrimal duct obstruction; 3m-bilateral corneal ulcers, photophobia, conjunctival injection, non-scarring diffuse scalp alopecia 1 1 Johan den Dunnen
00468515 Pat74 PubMed: Wang 2024 patient, no family history F - China - - - - - CTRCT cortical cataract; no symmetrical opacities; recurrent corneal erosions, recurrent aphthous ulcer, glaucoma, sparse and brittle hair, ichthyosis, 1 1 Johan den Dunnen
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