Results 121 to 130 of about 14,698 (215)

Ichthyosis Fetalis in a Lacaune Lamb

Ichthyosis (inherited congenital condition) is a heterogeneous group of skin cornification and keratinization disorders. Ichthyosis can affect animal and human and characterized by an excessive amount of superficial scale on the skin. A male Lacaune lamb
Arman Shokri, Afshin Raoofi, Sara Shokrpoor   +2 more
core   +1 more source

Novel Compound Heterozygous Variants in <i>TGM1</i> and <i>CYP4F22</i> in Two Newborns with Non-Syndromic Epidermal Differentiation Disorders (<i>TGM1</i>-nEDD and <i>CYP4F22</i>-nEDD). [PDF]

J Clin Med
Serra G, Barbera G, Antona V, Malizia D, Neri I, Perre E, Piccione M, Vetro A, Vancini A, Giuffrè M, Corsello G.   +10 more
europepmc   +1 more source

Prevalence of Genodermatoses in Finland from 1995 to 2022: A Nationwide Registry Study. [PDF]

Acta Derm Venereol
Kunnari S, Sinikumpu SP, Jokelainen J, Huilaja L.   +3 more
europepmc   +1 more source

X-linked recessive ichthyosis with X-linked retinoschisis in two brothers: a case report. [PDF]

Front Genet
Liu K, Du X, Yang X, Chen C.
europepmc   +1 more source

Gene therapy for genodermatoses at the crossroads of innovation and clinical translation. [PDF]

Front Bioeng Biotechnol
Fabrizi A, Valenti M, Zacchino S, Russo K, Baschetti E, De Rosa L, De Luca M.   +6 more
europepmc   +1 more source

Secukinumab for lamellar ichthyosis in an adolescent: a case report. [PDF]

Transl Pediatr
Li L, Wei F.
europepmc   +1 more source

Ichthyosis prematurity syndrome mimicking hyper-IgE syndrome due to a novel SLC27A4 variant. [PDF]

Pediatr Allergy Immunol
Akal C, Haskoloğlu ZŞ, İslamoğlu C, Süleyman M, Acar MO, Kutlay NY, Doğu EF, İkincioğulları KA.   +7 more
europepmc   +1 more source

Identification of Pathogenic Variants in <i>CYP4F22</i>, <i>FLG</i>, <i>ALOX12B</i>, and <i>NIPAL4</i> in a Case Series of Inherited Ichthyosis. [PDF]

Int J Mol Sci
Sattar MA, Zaib AA, Abbasi H, Abideen MZU, Riazuddin S, Ahmed ZM, Naeem M.   +6 more
europepmc   +1 more source

Congenital Ichthyosis and Spastic Diplegia: Sjögren-Larsson Syndrome. [PDF]

Indian Dermatol Online J
Liu HL, Sung YF, Chiang CP.
europepmc   +1 more source

Prenatal Diagnosis of Keratitis-Ichthyosis-Deafness Syndrome With Dandy Walker Malformation: A Case Report. [PDF]

Case Rep Obstet Gynecol
Bourdil L, Georgia Blume C.
europepmc   +1 more source