Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait-Reference-Cited by-同舟云学术

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Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait

Published:2018-07-16 Issue:9 Volume:57 Page:1058-1067
ISSN:0011-9059
Container-title:International Journal of Dermatology
language:en
Short-container-title:Int J Dermatol

Author:

Nanda Arti¹,Liu Lu²,Al-Ajmi Hejab¹,Al-Saleh Qasem A.¹,Al-Fadhli Suad³,Anim John T.⁴⁵,Ozoemena Linda²,Mellerio Jemima E.⁶,McGrath John A.⁶

Affiliation:

1. As'ad Al-Hamad Dermatology Center; Salmiya Kuwait

2. National Diagnostic Epidermolysis Bullosa Laboratory, Viapath; St. Thomas’ Hospital; London UK

3. Department of Medical Laboratory Sciences; Faculty of Allied Health Sciences; Kuwait University; Safat Kuwait

4. Department of Pathology; Faculty of Medicine; Kuwait University; Safat Kuwait

5. Ghana College of Physicians and Surgeons; Accra Ghana

6. St. John's Institute of Dermatology; King's College London; Guy's Campus; London UK

Funder

National Institute for Health Research

Guy's and St Thomas' NHS Foundation Trust

King’s College London

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ijd.14099/fullpdf

Reference52 articles.

1. Genetics of consanguinity and inbreeding in health and disease;Fareed;Ann Hum Biol,2017

2. Consanguinity among the Kuwaiti population;Al-Awadi;Clin Genet,1985

3. Autosomal recessive disorders among Arabs: an overview from Kuwait;Teebi;J Med Genet,1994

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

5. Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility;He;Am J Hum Genet,2016

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1. Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia;Australasian Journal of Dermatology;2023-07-14

2. DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy;Clinical Genetics;2023-07-11

3. Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients;Orphanet Journal of Rare Diseases;2022-12-28

4. Clinical features and outcomes of epidermolysis bullosa in thai children: A 20-Year review from a Tertiary Care Center;Archives of Community Medicine and Public Health;2022-11-05

5. Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN‐VI);Experimental Dermatology;2022-03-19

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