A novel autosomal recessive GJB2 -associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma-Reference-Cited by-同舟云学术

A novel autosomal recessive GJB2 -associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma

Published:2018-12-01 Issue:2 Volume:40 Page:217-229
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Youssefian Leila¹²³,Vahidnezhad Hassan¹⁴,Saeidian Amir Hossein¹³,Mahmoudi Hamidreza⁵,Karamzadeh Razieh⁶,Kariminejad Ariana⁷,Huang Jianhe¹,Li Leping⁸,Jannace Thomas F.⁸,Fortina Paolo⁹¹⁰,Zeinali Sirous⁴,White Thomas W.⁸,Uitto Jouni¹^ORCID

Affiliation:

1. Department of Dermatology and Cutaneous Biology; Sidney Kimmel Medical College; Jefferson Institute of Molecular Medicine; Thomas Jefferson University; Philadelphia PA USA

2. Department of Medical Genetics; School of Medicine; Tehran University of Medical Sciences; Tehran Iran

3. Genetics; Genomics and Cancer Biology PhD Program; Thomas Jefferson University; Philadelphia PA USA

4. Biotechnology Research Center; Department of Molecular Medicine; Pasteur Institute of Iran; Tehran Iran

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

6. Department of Stem Cells and Developmental Biology; Cell Science Research Center; Royan Institute for Stem Cell Biology and Technology; ACECR; Tehran Iran

7. Kariminejad-Najmabadi Pathology & Genetics Center; Tehran Iran

8. Department of Physiology and Biophysics; Stony Brook University; Stony Brook NY USA

9. Department of Cancer Biology; Sidney Kimmel Cancer Center; Thomas Jefferson University; Philadelphia PA USA

10. Department of Molecular Medicine; Sapienza University; Rome Italy

Funder

National Eye Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23686/fullpdf

Reference59 articles.

1. A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads;Akiyama;Journal of Investigative Dermatology,2007

2. Porokeratotic eccrine ostial and dermal duct nevus;Bandyopadhyay;Indian Dermatology Online Journal,2015

3. Gap junctions formed by connexins 26 and 32 alone and in combination are differently affected by applied voltage;Barrio;Proceedings of the National Academy of Sciences of the United States of America,1991

4. Punctate keratoderma;Brown;Archives of Dermatology,1971

5. Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175;Brown;Human Molecular Genetics,1996

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