A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report-Reference-Cited by-同舟云学术

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A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report

Published:2011-06-22 Issue:4 Volume:29 Page:521-522
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:

Author:

Alpigiani Maria G.,Salvati Pietro,Schiaffino Maria Cristina,Occella Corrado,Castiglia Daniela,Covaciu Claudia,Lorini Renata

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1525-1470.2011.01525.x/fullpdf

Reference5 articles.

1. Technical standards and guidelines for the diagnosis of biotinidase deficiency;Cowan;Genet Med,2010

2. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families;Bitoun;J Invest Dermatol,2002

3. Analysis of mutations causing biotinidase deficiency;Pindolia;Hum Mutat,2010

4. Netherton syndrome: report of identical twins presenting with severe atopic dermatitis;Kilic;Eur J Pediatr,2006

5. A new SPINK5 donor splice site mutation in siblings with Netherton syndrome;Tüysüz;Acta Derm Venereol,2010

Cited by 11 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. Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene;Genes;2023-05-14

2. A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome;Frontiers in Genetics;2022-09-09

3. A novel SPINK5 donor splice site variant in a child with Netherton syndrome;Molecular Genetics & Genomic Medicine;2021-02-03

4. A new splice-site mutation of SPINK5 gene in the Netherton syndrome with different clinical features: A case report;Balkan Journal of Medical Genetics;2020-06-01

5. Netherton Syndrome;Harper's Textbook of Pediatric Dermatology;2019-11-20

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