Results 91 to 100 of about 4,141 (172)

Ichthyosis Prematurity Syndrome Caused by a Novel Homozygous SLC27A4 Mutation in Two Emirati Siblings. [PDF]

Cureus
Almarzooqi S, Salvo F.
europepmc   +1 more source

Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport. [PDF]

J Clin Invest
Zhang Z, Huang S, Jackson A, Jones EA, Banka S, Yang C, Zhao S, Lv K, Peng S, Lin Z, Wang H.   +10 more
europepmc   +1 more source

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases. [PDF]

Acta Derm Venereol
Xiang R, Huang X, Liu Y, Sun S, Hua D, Mo R, Yang Y, Chen Z.   +7 more
europepmc   +1 more source

Atopic Dermatitis with Ichthyosis, Recurrent Fungal and Viral Infections: A Case of Concurrent <i>FLG</i> and Multiple Immune-Related Gene Mutations. [PDF]

Clin Cosmet Investig Dermatol
Huang C, Sun J, Zhang C.
europepmc   +1 more source

Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy. [PDF]

Int J Mol Sci
Ponomarev A, Ganiev I, Aimaletdinov A, Mansurova M, Titova A, Rizvanov A, Solovyeva V.   +6 more
europepmc   +1 more source

Oral Manifestations of Lamellar Ichthyosis: A Case Report of Two Siblings. [PDF]

Int J Clin Pediatr Dent
D'Souza OK, Dukle SG, Naik R, de Ataide IN.   +3 more
europepmc   +1 more source

Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing <i>Trichophyton rubrum</i> Infection and Blocker Displacement Amplification for Mosaic Mutation Detection. [PDF]

Biomedicines
Liu J, Fu Y, Zhang Q, Chen Q, Yang Y, Xue Y, Ren Y.   +6 more
europepmc   +1 more source

Complex Dermatological Manifestations of Poorly Controlled Diabetes: A Case of Acquired Ichthyosis. [PDF]

Case Rep Dermatol Med
Fathizadeh S, Woods AD, Escobar ST, Tsoukas M.   +3 more
europepmc   +1 more source

Dupilumab for Trichothiodystrophy-Case Report and Review of the Literature. [PDF]

Clin Case Rep
O'Mahony J, O'Connor C.
europepmc   +1 more source