Results 131 to 140 of about 50,601 (205)

Hair Improvement in SPINK5-sEDD (Netherton Syndrome) With Dupilumab. [PDF]

Pediatr Dermatol
Costa MB, Santos RB, Granja BV, Cruz MJ, Pedrosa A, Mota A.   +5 more
europepmc   +1 more source

Harlequin ichthyosis in a newborn: a rare and severe congenital ichthyosis. [PDF]

Pan Afr Med J
Tamgadge A, Gomase K.
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

Genodermatosis among the southwestern Saudi population: The pattern and the need for a premarital genetic screening protocol. [PDF]

Saudi Med J
Alfahaad HA.
europepmc   +1 more source

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis. [PDF]

Front Immunol
Sefer AP, Catak MC, An I, Keser Ozturk N, Baykal Selcuk L, Dincer OS, Benamar M, Getachew F, Schmitz-Abe K, Agrawal PB, Bayram Catak F, Erman B, Bilgic Eltan S, Karakoc Aydiner E, Ozen A, Chatila T, Baris S.   +16 more
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

Role of Patient Support Organizations and Collaborative Genomics Programs in Enabling Participatory Medicine for Rare Diseases in India: A Case Study of Autosomal Recessive Congenital Ichthyosis. [PDF]

Indian Dermatol Online J
Tandon S, Muthyala R, Bhalla D, Yenamandra VK.   +3 more
europepmc   +1 more source

Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review. [PDF]

J Hum Genet
Altıner Ş, Gökpınar İli E, Yurtdaş AK, Kurtçu O, Doğulu N, Öktem A, Köse E, Eminoğlu FT, Yıldırım BT, Aslanger AD, Yeşil Sayın G, Karabulut HG.   +11 more
europepmc   +1 more source

Skin barrier dysfunction and correlation with the onset and progression of psoriasis. [PDF]

Front Immunol
Wang Y, Liang Y, Xing J, Li J, Zhang K.
europepmc   +1 more source

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

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