A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina-Reference-Cited by-同舟云学术

A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina

Published:2020-03 Issue:2 Volume:37 Page:337-341
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Valinotto Laura Elena¹²^ORCID,Natale Mónica Inés¹,Lusso Silvina Beatriz¹,Cella Eliana³,Gutiérrez Olga⁴,Sebastiani Fernando⁵,Manzur Graciela Beatriz¹⁶

Affiliation:

1. CEDIGEA Centro de investigaciones en Genodermatosis y Epidermólisis Ampollar Hospital de Niños Dr. Ricardo Gutiérrez / Facultad de Medicina Universidad de Buenos Aires Buenos Aires Argentina

2. CONICET Consejo Nacional de Investigaciones Científicas y Técnicas Buenos Aires Argentina

3. Servicio de Dermatología Hospital de Pediatría S.A.M.I.C. Prof. Dr. Juan P. Garrahan Buenos Aires Argentina

4. Servicio de Dermatología Hospital General Pediátrico Niños de Acosta Ñu San Lorenzo Paraguay

5. Servicio de Dermatología, Hospital de Infecciosas Dr Francisco Javier Muñiz Buenos Aires Argentina

6. Servicio de Dermatología Hospital de Niños Dr. Ricardo Gutiérrez Buenos Aires Argentina

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14076

Reference12 articles.

1. Kindlin-1 Is a Phosphoprotein Involved in Regulation of Polarity, Proliferation, and Motility of Epidermal Keratinocytes

2. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

3. Kindler syndrome

4. Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history

5. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Cited by 3 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. Infections in Disorders of Immune Regulation;Pathogens;2024-03-17

2. Genetic Defects of Nails and Nail Growth;Rook's Textbook of Dermatology;2024-02-20

3. FERMT1 promotes gastric cancer progression by activating the NF-κB pathway and predicts poor prognosis;Cancer Biology & Therapy;2020-07-29