Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis-Reference-Cited by-同舟云学术

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Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

Published:2014-04 Issue:4 Volume:170 Page:980-982
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Fachal L.¹,Rodríguez-Pazos L.²,Ginarte M.³⁴,Carracedo A.¹⁴,Toribio J.³⁴,Vega A.¹

Affiliation:

1. Fundación Pública Galega de Medicina Xenómica-SERGAS; Grupo de Medicina Xenómica-USC; CIBERER; IDIS; Santiago de Compostela Spain

2. Dermatology Service; University Hospital Complex of Ferrol; SERGAS; Ferrol Spain

3. Department of Dermatology; University Hospital Complex of Santiago de Compostela; SERGAS; Santiago de Compostela Spain

4. Faculty of Medicine; University of Santiago de Compostela; Santiago de Compostela Spain

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.12757/fullpdf

Reference6 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. Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects;Rodríguez-Pazos;Br J Dermatol,2011

3. Multiple local and recent founder effects of TGM1 in Spanish families;Fachal;PLoS One,2012

4. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans;Grall;Nat Genet,2012

5. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans;Radner;PLoS Genet,2013

Cited by 23 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. Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family;Medicina;2023-01-02

2. PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis;Metabolites;2022-07-26

3. Alterations of Ultra Long-Chain Fatty Acids in Hereditary Skin Diseases—Review Article;Frontiers in Medicine;2021-08-23

4. Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance;Molecular Syndromology;2021

5. Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis;Molecular Genetics & Genomic Medicine;2019-12-13

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