The Kindler Syndrome: A Spectrum of FERMT1 Mutations in Iranian Families-Reference-Cited by-同舟云学术

The Kindler Syndrome: A Spectrum of FERMT1 Mutations in Iranian Families

Published:2015-05 Issue:5 Volume:135 Page:1447-1450
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Youssefian Leila,Vahidnezhad Hassan,Barzegar Mohammadreza,Li Qiaoli,Sotoudeh Soheila,Yazdanfar Ameneh,Ehsani Amir Hooshang,Kajbafzadeh Abdol-Mohammad,Mozafari Nikoo,Ebrahimi Daryani Nasser,Agha-hosseini Farzaneh,Zeinali Sirous,Uitto Jouni

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference18 articles.

1. Invasive squamous cell carcinoma of the hand in a patient with Kindler syndrome: case report and literature review;Cardin-Langlois;Can J Plast Surg,2010

2. A case of Kindler syndrome presenting with dysphagia;Ebrahimi;Govaresh,2013

3. Neonatal diagnosis of Kindler syndrome;Fassihi;J Dermatol Sci,2005

4. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J Am Acad Dermatol,2014

5. New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome;Fuchs-Telem;Clin Exp Dermatol,2014

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1. Gene-edited cells: novel allogeneic gene/cell therapy for epidermolysis bullosa;Journal of Applied Genetics;2024-03-09

2. Genetic Diagnosis of Kindler Syndrome, a Rare form of Genodermatosis in a Newborn with Identification of a Nonsense Mutation, c. 328C > T, in the FERMT1 gene in the Indian population;Indian Journal of Dermatology;2023-05

3. A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort;European Journal of Human Genetics;2022-12-01

4. Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China;Journal of the European Academy of Dermatology and Venereology;2022-11-05

5. Characterization of Amino Acid Substitutions and Deletions in Kindlin-1 FERM Domain: Relevance for Precision Medicine;Journal of Investigative Dermatology;2022-09