Results 111 to 120 of about 50,601 (205)

Harlequin Ichthyosis in a Preterm Neonate: A Rare Case Report. [PDF]

Clin Case Rep
Ali T, Javaid MH, Siddique MW, Abebe HT, Ul Haq I, Ali E, Ali Z, Afridi NA, Iqbal M.   +8 more
europepmc   +1 more source

Congenital bilateral ectropion in lamellar ichthyosis

Oman Journal of Ophthalmology, 2011
Chandana Chakraborti, Partha Tripathi, Gautam Bandopadhyay, Dayal Bandhu Mazumder   +3 more
doaj   +1 more source

The Candle Spot: An Unreported Sign of SULT2B1-nEDD. [PDF]

Acta Derm Venereol
Milesi S, Chiaverini C, Chêne L, Jonca N, Mazereeuw-Hautier J.   +4 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

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

A Mild Phenotype of Nonsyndromic Epidermal Differentiation Disorder in a Compound Heterozygous Patient With a Novel NIPAL4 Frameshift Variant (p.Ser231Argfs*4). [PDF]

J Dermatol
Tanaka H, Yamamura K, Tanahashi K, Noda T, Takeichi T, Akiyama M, Dainichi T.   +6 more
europepmc   +1 more source

X-linked ichthyosis with seizures, ADHD, and autism spectrum disorder: a case report with an uncommon clinical presentation. [PDF]

Ann Med Surg (Lond)
Othman LA, Shaban RA, Othman AA, Al Malla IF, Almohammad TY, Al-Kubati ASA, Alchalabi E, Sadeq DA, Sleiay B, Anjila YM, Shlash B, Alhawarnh DM, Alfarhan AE, Alkhalil RA.   +13 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

Skin Lipid Dysregulation in Atopic Dermatitis and Related Inflammatory Skin Diseases. [PDF]

Allergy Asthma Immunol Res
Kim HB, Park J, Lim CS, Um JY, Chung BY, Park CW, Lee DK, Kim HO.   +7 more
europepmc   +1 more source

Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report. [PDF]

Clin Cosmet Investig Dermatol
Zhao C, Tao N, Ge L, Sun M, Su Y, Yang Y, Xu F, Huang Q, Xu L.   +8 more
europepmc   +1 more source