A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B

Br J Dermatol. 2015 Jul;173(1):285-7. doi: 10.1111/bjd.13627. Epub 2015 May 18.

Authors

P J Bland¹, C Chronnell¹, V Plagnol², H Kayserili³, D P Kelsell¹

Affiliations

¹ Centre for Cutaneous Research, The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, U.K.
² Department of Genetics, University College London, London, U.K.
³ Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet cad, 34093, Fatih Istanbul, Turkey.

PMID: 25524567
DOI: 10.1111/bjd.13627

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Arachidonate 12-Lipoxygenase / genetics*
Female
Homozygote
Humans
Ichthyosiform Erythroderma, Congenital / genetics*
Infant
Mutation, Missense / genetics*
Phenotype

Substances

ALOX12B protein, human
Arachidonate 12-Lipoxygenase