A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis-Reference-Cited by-同舟云学术

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A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis

Published:2016-02-01 Issue:12 Volume:30 Page:e217-e219
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Bitar F.¹,Najjar T.²,Hayashi R.³,Nemer G.⁴,Shigehara Y.³,Hamie L.⁵,Abbas O.⁶,Kibbi A.G.⁶,Shimomura Y.³,Kurban M.⁴⁶⁷

Affiliation:

1. Division of Pediatric Cardiology; Children's Heart Center; American University of Beirut-Medical Center; Beirut Lebanon

2. American University of Beirut; Beirut Lebanon

3. Division of Dermatology; Niigata University Graduate School of Medical and Dental Sciences; Niigata Japan

4. Department of Biochemistry and Molecular Genetics; American University of Beirut-Medical Center; Beirut Lebanon

5. Medical Student American University of Beirut-Medical Center; Beirut Lebanon

6. Department of Dermatology; American University of Beirut-Medical Center; Beirut Lebanon

7. Department of Dermatology; Columbia University; New York NY USA

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.13549/fullpdf

Reference9 articles.

1. Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis;Kurban;J Eur Acad Dermatol Venereol,2012

2. Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture;Shimomura;Am J Hum Genet,2010

3. A missense mutation within the helix initiation motif of the keratin 71 gene underlies autosomal dominant woolly hair/hypotrichosis;Fujimoto;J Invest Dermatol,2012

4. A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair;Ansar;J Med Genet,2015

5. A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient;Kurban;J Dermatol Sci,2010

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1. A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review;Clinical, Cosmetic and Investigational Dermatology;2023-09

2. A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility;Clinical and Experimental Dermatology;2022-05-16

3. Update of recent findings in genetic hair disorders;The Journal of Dermatology;2021-10-21

4. Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review;Internal Medicine;2021-04-01

5. Intercalated discs: cellular adhesion and signaling in heart health and diseases;Heart Failure Reviews;2018-10-05

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