A new homozygous nonsense mutation inLAMA3Aunderlying laryngo-onycho-cutaneous syndrome-Reference-Cited by-同舟云学术

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

Published:2013-12 Issue:6 Volume:169 Page:1353-1356
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Barzegar M.¹,Mozafari N.¹,Kariminejad A.²,Asadikani Z.¹,Ozoemena L.³,McGrath J.A.⁴

Affiliation:

1. Skin Research Center; Shahid Beheshti University of Medical Sciences; Shohad e Tajrish Hospital; Tehran Iran

2. Kariminejad-Najmabadi Pathology and Genetics Center; no. 2, 4th St., Hasan Seyf St., Sanat Square Shahrak Gharb Tehran Iran

3. GSTS Pathology; St Thomas’ Hospital; London U.K

4. St John's Institute of Dermatology; King's College London (Guy's Campus); London U.K

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.12522/fullpdf

Reference11 articles.

1. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB;Fine;J Am Acad Dermatol,2008

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

3. Laryngeal and ocular granulation tissue formation in two Punjabi children: LOGIC syndrome;Ainsworth;Eye,1991

4. Multisystem disorder of Punjabi children exhibiting spontaneous dermal and submucosal granulation tissue formation: LOGIC syndrome;Ainsworth;Clin Dysmorphol,1992

5. Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect;Phillips;Arch Dis Child,1994

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

2. Laminin N‐terminus α31 expression during development is lethal and causes widespread tissue‐specific defects in a transgenic mouse model;The FASEB Journal;2022-06

3. Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families;Frontiers of Medicine;2022-03-21

4. A little bit of LOGIC goes a long way: Multidisciplinary management of LOGIC Syndrome‐associated oral manifestations;Oral Surgery;2021-11-12

5. A local regulatory network in the testis mediated by laminin and collagen fragments that supports spermatogenesis;Critical Reviews in Biochemistry and Molecular Biology;2021-03-25

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