Results 121 to 130 of about 50,551 (154)

A case of lamellar ichthyosis with rickets and carcinoma of the hypopharynx. [PDF]

Indian J Dermatol, 2014
Bubna AK, Veeraraghavan M, Anandan S, Rangarajan S.   +3 more
europepmc   +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

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation. [PDF]

Front Pediatr, 2019
Alallasi SR, Kokandi AA, Banagnapali B, Shaik NA, Al-Shehri BA, Alrayes NM, Al-Aama JY, Jelani M.   +7 more
europepmc   +1 more source

Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases. [PDF]

Dermatopathology (Basel)
Süßmuth K, Oji V, Bodes J, Jochum I, Muhs F, Komlosi K, Hausser I, Schmuth M, Traupe H, Fischer J, Metze D.   +10 more
europepmc   +1 more source

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

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