Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype

Collodion baby is a congenital, transient phenotype encountered in approximately 70–90% of autosomal recessive congenital ichthyosis and is an important entity of neonatal erythroderma. The clinical outcome after this severe condition is variable. Genetic mutations of components of the epidermal lip...

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Detalles Bibliográficos
Autores principales: Anker, Pálma, Kiss, Norbert, Kocsis, István, Czemmel, Éva, Becker, Krisztina, Zakariás, Sára, Plázár, Dóra, Farkas, Klára, Mayer, Balázs, Nagy, Nikoletta, Széll, Márta, Ács, Nándor, Szalai, Zsuzsanna, Medvecz, Márta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8304297/
https://www.ncbi.nlm.nih.gov/pubmed/34199106
http://dx.doi.org/10.3390/life11070624

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