Netherton Syndrome: A Genotype-Phenotype Review-Reference-Cited by-同舟云学术

Netherton Syndrome: A Genotype-Phenotype Review

Published:2016-11-30 Issue:2 Volume:21 Page:137-152
ISSN:1177-1062
Container-title:Molecular Diagnosis & Therapy
language:en
Short-container-title:Mol Diagn Ther

Author:

Sarri Constantina A.,Roussaki-Schulze Angeliki,Vasilopoulos Yiannis,Zafiriou Efterpi,Patsatsi Aikaterini,Stamatis Costas,Gidarokosta Polyxeni,Sotiriadis Dimitrios,Sarafidou Theologia,Mamuris Zissis

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology,Genetics,Molecular Medicine,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s40291-016-0243-y.pdf

Reference78 articles.

1. Sprecher E, Amin S, Nielsen K, Prendiville JS, Uitto J, Richard G, et al. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol. 2001;117(2):179–87.

2. Pruszkowski A, Bodemer C, Fraitag S, Teillac-Hamel D, Amoric JC, de Prost Y. Neonatal and infantile erythrodermas: a retrospective study of 51 patients. Arch Dermatol. 2000;136(7):875–80.

3. Chavanas S, Garner C, Bodemer C, Ali M, Teillac DH, Wilkinson J, et al. Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. Am J Hum Genet. 2000;66(3):914–21.

4. Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet. 2000;25(2):141–2.

5. Tartaglia-Polcini A, Bonnart C, Micheloni A, Cianfarani F, Andrè A, Zambruno G, et al. SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing. J Invest Dermatol. 2006;126(2):315–24.

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