Lipoid Proteinosis Due to Homozygous Deletion Mutation (c.735delTG) in the ECM1 Gene Presents with Seizures and Hoarseness but No Skin Involvement-Reference-Cited by-同舟云学术

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Lipoid Proteinosis Due to Homozygous Deletion Mutation (c.735delTG) in the ECM1 Gene Presents with Seizures and Hoarseness but No Skin Involvement

Published:2019-11-21 Issue:1 Volume:3 Page:43-45
ISSN:2096-5540
Container-title:International Journal of Dermatology and Venereology
language:en
Short-container-title:Int J Dermatol Venereol

Author:

Vahidnezhad Hassan,Youssefian Leila,Tafakhori Abbas,Li Qiaoli,Uitto Jouni,Rajabpour Fatemeh Vand,Pishnamazi Morteza,Modabbernia Amirhossein,Tabrizi Mina

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Infectious Diseases,Dermatology

Reference6 articles.

1. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1;Chan;Exp Dermatol,2007

2. Lipoid proteinosis: ultrastructural and biochemical studies;Moy;J Am Acad Dermatol,1987

3. Should we think of Urbach-Wiethe disease in refractory epilepsy? Case report and review of the literature;Omrani;J Neurol Sci,2012

4. Extracellular matrix protein 1 gene (ecm1) mutations in lipoid proteinosis and genotype–phenotype correlation;Hamada;J Invest Dermatol,2003

5. Epilepsy and migraine in a patient with Urbach-Wiethe disease;Claeys;Seizure,2007

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