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Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Ge...

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Ge...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_bcc1326cb5a44ea7b20651ae08bfd1f6

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

About this item

Full title

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

Publisher

Basel: MDPI AG

Journal title

Life (Basel, Switzerland), 2021-06, Vol.11 (7), p.624

Language

English

Formats

Publication information

Publisher

Basel: MDPI AG

More information

Scope and Contents

Contents

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 lipoxygenase pathway have been implicated in the majo...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_bcc1326cb5a44ea7b20651ae08bfd1f6

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_bcc1326cb5a44ea7b20651ae08bfd1f6

Other Identifiers

ISSN

2075-1729

E-ISSN

2075-1729

DOI

10.3390/life11070624

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