research NIPAL4 Mutation c.527C>A Identified in Romanian Patients With Autosomal Recessive Congenital Ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
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research The Estrogen Receptor 2 (ESR2) Gene in Female-Pattern Hair Loss: Replication of Association with rs10137185 in German Patients
ESR2 gene linked to female-pattern hair loss.
research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
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