Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family-Reference-Cited by-同舟云学术

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Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family

Published:2015-03-07 Issue:5 Volume:172 Page:1407-1411
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Takeichi T.¹²,Nanda A.³,Aristodemou S.⁴,McMillan J.R.⁴,Lee J.¹,Akiyama M.²,Al-Ajmi H.³,Simpson M.A.⁵,McGrath J.A.¹

Affiliation:

1. St John's Institute of Dermatology; King's College London; Guy's Hospital; Great Maze Pond London SE1 9RT U.K

2. Department of Dermatology; Nagoya University Graduate School of Medicine; Nagoya Japan

3. As'ad Al-Hamad Dermatology Center; Al-Sabah Hospital; Kuwait

4. The National Diagnostic EB Laboratory; Viapath, St Thomas’ Hospital; London U.K

5. Department of Genetics and Molecular Medicine; King's College London; Guy's Hospital; Great Maze Pond London SE1 9RT U.K

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.13473/fullpdf

Reference11 articles.

1. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009;Oji;J Am Acad Dermatol,2010

2. Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis?;Lestringant;Am J Med Genet,1998

3. Type II transmembrane serine proteases. Insights into an emerging class of cell surface proteolytic enzymes;Hooper;J Biol Chem,2001

4. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase;Basel-Vanagaite;Am J Hum Genet,2007

5. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype;Avrahami;Clin Genet,2008

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1. Whole‐exome sequencing reveals a retinitis pigmentosa‐causative PRPH2 variant as a secondary finding in a patient with pseudoxanthoma elasticum;The Journal of Dermatology;2022-10-25

2. SDR9C7 plays an essential role in skin barrier function by dehydrogenating acylceramide for covalent attachment to proteins;Journal of Dermatological Science;2020-05

3. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis;Acta Dermato Venereologica;2020

4. Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families;Human Mutation;2019-01-16

5. Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review;Journal of Inherited Metabolic Disease;2019-01

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