Novel mutation in theCLDN1gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome-Reference-Cited by-同舟云学术

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Novel mutation in theCLDN1gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome

Published:2014-04 Issue:4 Volume:170 Page:976-978
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Kirchmeier P.¹²,Sayar E.³,Hotz A.¹,Hausser I.⁴,Islek A.³,Yilmaz A.³,Artan R.³,Fischer J.¹

Affiliation:

1. Institute of Human Genetics; University Medical Center Freiburg; Breisacherstraße 33 79106 Freiburg Germany

2. Faculty of Biology; University of Freiburg; Schänzlestraße 1 79104 Freiburg Germany

3. Department of Pediatric Gastroenterology; Akdeniz University Faculty of Medicine; Kampus 07070 Antalya Turkey

4. Institute of Pathology; Heidelberg University Hospital; Neuenheimer Feld 224 69120 Heidelberg Germany

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.12724/fullpdf

Reference9 articles.

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

2. Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28;Baala;J Invest Dermatol,2002

3. Confirmation of the origin of NISCH syndrome;Feldmeyer;Hum Mutat,2006

4. Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease;Hadj-Rabia;Gastroenterology,2004

5. Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability;Grosse;Hepatology,2012

Cited by 38 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews;Clinical Genetics;2023-10-09

2. Double mutation of claudin‐1 and claudin‐3 causes alopecia in infant mice;Annals of the New York Academy of Sciences;2023-03-31

3. A novel CLDN1 variant identified in a case of ILVASC with sparse curly hair;Clinical and Experimental Dermatology;2023-03-07

4. Neonatal ichthyosis–sclerosing cholangitis syndrome: report of a novel mutation and a review of the literature;Clinical Dysmorphology;2023-02-13

5. Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report;Pediatric Dermatology;2023-01-19

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