Results 211 to 220 of about 528,814 (282)

Genodermatoses: Differential diagnosis of cutaneous elastin disorders: Cutis Laxa vs. pseudoxanthoma elasticum [PDF]

, 2013
Uitto, Jouni
core   +1 more source

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

, 2015
Rahim Ullah, Muhammad Ansar, Zaka Ullah Durrani, Kwanghyuk Lee, Regie Lyn P. Santos‐Cortez, Dost Muhammad, Mahboob Ali, Muhammad Zia, Muhammad Ayub, Suliman Khan, Josh D. Smith, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, Suzanne M. Leal, Wasim Ahmad   +15 more
openalex   +2 more sources

Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis. [PDF]

Br J Dermatol, 2018
Polubothu S, Glover M, Holder SE, Kinsler VA.   +3 more
europepmc   +1 more source

Epidermolytic hyperkeratosis symptomcomplex in patients with bullous congenital ichthyosiform erythroderma and ichthyosis hystrix

, 2000
Е. К. Захарова, Z M Getling, A. M. Vavilov, V. N. Mordovtsev   +3 more
openalex   +1 more source

Not lost to follow-up: A rare case of CHILD syndrome in a boy reappears. [PDF]

, 2018
Fackler, Nathan, Kim, Dong Joo, Sarpa, Hege Grande, Smith, Janellen, Zachary, Cameron   +4 more
core  

A rare case of ocular pterygium in a young boy with congenital lamellar ichthyosis

Shubratha S Hegde, Sandhya Dharwadkar, K Athira, Harsha Shaji   +3 more
openalex   +1 more source

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Revisiting X‐linked congenital ichthyosis

International Journal of Dermatology
AbstractX‐linked recessive ichthyosis (XLI) is a hereditary skin disease characterized by generalized dryness and scaling of the skin, with frequent extracutaneous manifestations. It is the second most common type of ichthyosis, with a prevalence of 1/6,000 to 1/2,000 in males and without any racial or geographical differences.
Baishun Zhou, Cancan Liang, Peiyao Li, Heng Xiao   +3 more
openaire   +3 more sources

Congenital Ichthyosis

Journal of Cutaneous Medicine and Surgery
Friday Ilop Joseph, Otaru Muhammedtahir
openaire   +2 more sources