Lethal Netherton Syndrome Due to Homozygous p.Arg371X Mutation in SPINK5-Reference-Cited by-同舟云学术

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Lethal Netherton Syndrome Due to Homozygous p.Arg371X Mutation in SPINK5

Published:2013-01-17 Issue:4 Volume:30 Page:e65-e67
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Diociaiuti Andrea¹,Castiglia Daniele²,Fortugno Paola¹,Bartuli Andrea³,Pascucci Monica²,Zambruno Giovanna²,El Hachem May¹

Affiliation:

1. Dermatology Unit; Bambino Gesù Children's Hospital; IRCCS; Rome; Italy

2. Laboratory of Molecular and Cell Biology; Istituto Dermopatico dell'Immacolata; IRCCS; Rome; Italy

3. Rare Disease Unit; Bambino Gesù Children's Hospital; IRCCS; Rome; Italy

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12076/fullpdf

Reference8 articles.

1. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome;Chavanas;Nat Genet,2000

2. Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis;Bitoun;Prenat Diagn,2002

3. A lethal variant of Netherton syndrome in a large inbred family;Capri;Arch Pediatr,2011

4. Hypernatremia and grade III/IV intraventricular haemorrhage among extremely low birth weight infants;Lim;J Perinatol,2011

5. Severe hypernatremic dehydration in an infant with Netherton syndrome;Stoll;Genet Couns,2011

Cited by 14 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-Syndrom bei einer bulgarischen Patientin;Wiener Medizinische Wochenschrift;2023-01-25

2. Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand;Pediatric Dermatology;2022-10-19

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

4. Netherton Syndrome in Children: Management and Future Perspectives;Frontiers in Pediatrics;2021-05-10

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

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