research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
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research Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy
This case report describes how a long-term combination of oral fatty acids and topical therapy appeared beneficial for managing autosomal recessive congenital ichthyosis in a goldendoodle with a PNPLA1 mutation.
research NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy
This study reports the first identification of the deleterious NIPAL 4 variant, associated with autosomal recessive congenital ichthyosis, in an American Bully and describes its clinical management and follow-up.
research Topical polyhydroxy acid treatment for autosomal recessive congenital ichthyosis in the golden retriever: a prospective pilot study
This study found that a gluconolactone-based shampoo and lotion significantly reduced skin scaling in golden retrievers with autosomal recessive congenital ichthyosis.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
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