Results 111 to 120 of about 363,235 (161)

ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis.

Ichthyoses are a heterogenous group of inherited disorders that are characterized by excessive scale formation on the skin. We investigated a Chihuahua with severe scaling since age 12 weeks.
Vinberg, Carina, Jagannathan, Vidhya, Rietmann, Stefan J., Leeb, Tosso, Åhman, Susanne, Soto, Sara   +5 more
core   +1 more source

Retrospective analysis of nail findings in the National Registry for Ichthyosis and Related Disorders database

Supplemental Figure LegendSupplemental Figure 1. Autosomal recessive congenital ichthyosis (Harlequin ichthyosis, ABCA12 genetic mutation) subject with parrot beak nails and pachyonychia of the fingernails. Supplemental Figure 2.
Curtis, K (via Mendeley Data)
core   +1 more source

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations. [PDF]

J Med Cases
Alqahtani JM.
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

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation. [PDF]

PLoS One, 2020
Esperón-Moldes U, Ginarte-Val M, Rodríguez-Pazos L, Fachal L, Martín-Santiago A, Vicente A, Jiménez-Gallo D, Guillén-Navarro E, Sampol LM, González-Enseñat MA, Vega A.   +10 more
europepmc   +1 more source

Autosomal recessive congenital ichthyosis due to novel CYP4F22 mutation presenting with a collodion membrane and ocular manifestations.

Autosomal recessive congenital ichthyoses (ARCI) are a range of genetic disorders of keratinization. The rare CYP4F22 gene mutation can present with or without collodion membrane at birth and leads to the development of mild ichthyosis phenotype.
Larijani, Mary, Hurley, Margaret, Swink, Shane M, Haynes, Dylan   +3 more
core   +1 more source

Three Novel Mutations in ALOX12B Gene in Patients with Autosomal Recessive Congenital Ichthyosis from Turkey. [PDF]

Dermatol Pract Concept
Zorlu Ö, Aşıkovalı S.
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

Mimicking the LOX-Related Autosomal Recessive Congenital Ichthyosis Skin Disease Using a CRISPR-Cas9 System and Unravelling 12S-LOX Function in the Skin. [PDF]

Dermatopathology (Basel)
Simard-Bisson C, Larochelle S, Moulin VJ, Fruteau de Laclos B.   +3 more
europepmc   +1 more source

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