Keratitis‐ichthyosis‐deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p. Asp50Asn GJB2 mutation-Reference-Cited by-同舟云学术

Keratitis‐ichthyosis‐deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p. Asp50Asn GJB2 mutation

Published:2020-11 Issue:6 Volume:33 Page:
ISSN:1396-0296
Container-title:Dermatologic Therapy
language:en
Short-container-title:Dermatologic Therapy

Author:

Asgari Tina¹,Naji Mahtab²³^ORCID,Mansouri Parvin⁴^ORCID,Mahmoudi Hamidreza⁵^ORCID,Zabihi Masoud⁶,Youssefian Leila²³^ORCID,Mahdavi Mohammadreza⁷,Naraghi Zahra Safaei⁸,Zeinali Sirous⁶⁹,Vahidnezhad Hassan²³^ORCID,Uitto Jouni²³^ORCID

Affiliation:

1. Department of Biology, Science, and Research Branch Islamic Azad University Tehran Iran

2. Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College Thomas Jefferson University Philadelphia Pennsylvania USA

3. Jefferson Institute of Molecular Medicine Thomas Jefferson University Philadelphia Pennsylvania USA

4. Skin and Stem Cell Research Center Tehran University of Medical Sciences Tehran Iran

5. Department of Dermatology Tehran University of Medical Sciences, Razi Hospital Tehran Iran

6. Kawsar Human Genetics Research Center Tehran Iran

7. Thalassemia Research Center Mazandaran University of Medical Sciences Sari Iran

8. Departments of Dermatology and Pathology Tehran University of Medical Sciences, Razi Hospital Tehran Iran

9. Department of Molecular Medicine Biotechnology Research Center, Pasteur Institute of Iran Tehran Iran

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/dth.14493

Reference13 articles.

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2. Genetics of Inherited Ichthyoses and Related Diseases

3. Human diseases associated with connexin mutations

4. Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

5. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity

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1. Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma;Journal of the European Academy of Dermatology and Venereology;2023-02-17

2. Keratitis‐ichthyosis‐deafness syndrome: A comprehensive review of cutaneous and systemic manifestations;Pediatric Dermatology;2022-11-29

3. Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease;Current Pediatrics;2022-11-07

4. Ichthyosis follicularis syndromes in patients with mutations in GJB2;Clinical and Experimental Dermatology;2022-08-01

5. Connexins and the Epithelial Tissue Barrier: A Focus on Connexin 26;Biology;2021-01-14