Literature DB >> 28832989

A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course.

Mariela J Nevet1, Margarita Indelman1, Josef Ben-Ari2, Reuven Bergman1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 28832989     DOI： 10.1111/ijd.13730

Source DB:  PubMed          Journal:  Int J Dermatol        ISSN： 0011-9059            Impact factor:   2.736


× No keyword cloud information.
  6 in total

1.  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

2.  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

3.  An 8-Year-Old Child with Delayed Diagnosis of Netherton Syndrome.

Authors:  Alexander K C Leung; Benjamin Barankin; Kin Fon Leong
Journal:  Case Rep Pediatr       Date:  2018-01-30

4.  A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient.

Authors:  Nishath Hamza; Nashat Al Sukaiti; Khwater A M Ahmed; Rosa Romano; Uday A Gokhale; Qiang Pan-Hammarström
Journal:  Sultan Qaboos Univ Med J       Date:  2021-11-25

Review 5.  Netherton Syndrome in Children: Management and Future Perspectives.

Authors:  Federica Barbati; Mattia Giovannini; Teresa Oranges; Lorenzo Lodi; Simona Barni; Elio Novembre; Ermanno Baldo; Mario Cristofolini; Stefano Stagi; Silvia Ricci; Francesca Mori; Cesare Filippeschi; Chiara Azzari; Giuseppe Indolfi
Journal:  Front Pediatr       Date:  2021-05-10       Impact factor: 3.418

6.  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
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.