Atypical presentation of laryngo‐onycho‐cutaneous syndrome resulting from novel mutations in LAMA3A-Reference-Cited by-同舟云学术

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Atypical presentation of laryngo‐onycho‐cutaneous syndrome resulting from novel mutations in LAMA3A

Published:2021-02-18 Issue:5 Volume:46 Page:990-992
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Vodo D.¹²,Malchin N.¹,DeRowe A.³,Sprecher E.¹²,Sarig O.¹^ORCID

Affiliation:

1. Division of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv Israel

2. Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel

3. Department of Otolaryngology, Head and Neck and Maxillofacial Surgery Tel Aviv Sourasky Medical Center Tel Aviv Israel

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ced.14575

Reference8 articles.

1. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

2. Laryngo‐onycho‐cutaneous syndrome: a study of 22 cases;Shabbir G;Biomedica,1986

3. An unusual N-terminal deletion of the laminin 3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome

4. A new homozygous nonsense mutation inLAMA3Aunderlying laryngo-onycho-cutaneous syndrome

5. Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome

Cited by 2 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. Conjunctiva;Ocular Pathology;2025

2. c.151dup variant in LAMA3 in Pakistani patients affected with Shabbir Syndrome but showing mild symptoms;Pakistan Journal of Medical Sciences;2023-05-16

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