Literature DB >> 21692842

A new SPINK5 mutation in a patient with Netherton syndrome: a case report.

Maria G Alpigiani1, Pietro Salvati, Maria Cristina Schiaffino, Corrado Occella, Daniela Castiglia, Claudia Covaciu, Renata Lorini.   

Abstract

We report on a case of Netherton syndrome showing a new SPINK5 mutation (c.957_960dupTGGT duplication in exon 11), associated with partial defect of biotinidase.
© 2011 Wiley Periodicals, Inc.

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Year:  2011        PMID： 21692842     DOI： 10.1111/j.1525-1470.2011.01525.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


  4 in total

Review 1.  Netherton Syndrome: A Genotype-Phenotype Review.

Authors:  Constantina A Sarri; Angeliki Roussaki-Schulze; Yiannis Vasilopoulos; Efterpi Zafiriou; Aikaterini Patsatsi; Costas Stamatis; Polyxeni Gidarokosta; Dimitrios Sotiriadis; Theologia Sarafidou; Zissis Mamuris
Journal:  Mol Diagn Ther       Date:  2017-04       Impact factor: 4.074

2.  A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome.

Authors:  Yu Wang; Hanqing Song; Lingling Yu; Nan Wu; Xiaodong Zheng; Bo Liang; Peiguang Wang
Journal:  Front Genet       Date:  2022-09-09       Impact factor: 4.772

3.  A novel SPINK5 donor splice site variant in a child with Netherton syndrome.

Authors:  Dillon Mintoff; Isabella Borg; Julia Vornweg; Liam Mercieca; Rijad Merdzanic; Johannes Numrich; Susan Aquilina; Nikolai Paul Pace; Judith Fischer
Journal:  Mol Genet Genomic Med       Date:  2021-02-03       Impact factor: 2.183

4.  A New Splice-site Mutation of SPINK5 Gene in the Netherton Syndrome with Different Clinical Features: A Case Report.

Authors:  E Erden; A C Ceylan; S Emre
Journal:  Balkan J Med Genet       Date:  2020-08-26       Impact factor: 0.519
  4 in total

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