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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Principais autores:	Pálma Anker, Norbert Kiss, István Kocsis, Éva Czemmel, Krisztina Becker, Sára Zakariás, Dóra Plázár, Klára Farkas, Balázs Mayer, Nikoletta Nagy, Márta Széll, Nándor Ács, Zsuzsanna Szalai, Márta Medvecz
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2021-06-01
coleção:	Life
Assuntos:	self-improving collodion ichthyosis collodion baby collodion membrane ALOX12B mutation genodermatosis
Acesso em linha:	https://www.mdpi.com/2075-1729/11/7/624
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