A severe collodion phenotype in the newborn period associated with a homozygous missense mutation inALOX12B-Reference-Cited by-同舟云学术

A severe collodion phenotype in the newborn period associated with a homozygous missense mutation inALOX12B

Published:2015-05-18 Issue:1 Volume:173 Page:285-287
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Bland P.J.¹,Chronnell C.¹,Plagnol V.²,Kayserili H.³,Kelsell D.P.¹

Affiliation:

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

Funder

Samuel Hardgrave Harlequin Ichthyosis Research Trust (SHHiRT)

Ichthyosis Support Group (ISG)

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.13627/fullpdf

Reference10 articles.

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2. Collodion baby and lamellar ichthyosis;Sandler;J Cutan Pathol,1998

3. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases;Rajpopat;Arch Dermatol,2011

4. Mutations of keratinocyte transglutaminase in lamellar ichthyosis;Huber;Science,1995

5. Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity;Krebsová;Am J Hum Genet,2001

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