Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation inECM1-Reference-Cited by-同舟云学术

Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation inECM1

Published:2015-02-26 Issue:3 Volume:24 Page:220-222
ISSN:0906-6705
Container-title:Experimental Dermatology
language:en
Short-container-title:Exp Dermatol

Author:

Youssefian Leila¹²,Vahidnezhad Hassan¹²³,Daneshpazhooh Maryam⁴,Abdollahzadeh Sina⁵,Talari Hamidreza⁶,Khoshnevisan Alireza⁵,Chams-Davatchi Cheyda⁴,Mobasher Roozbeh⁴,Li Qiaoli²,Uitto Jouni²,Akhondzadeh Shahin⁷,Tabrizi Mina¹

Affiliation:

1. Department of Medical Genetics; School of Medicine; Tehran University of Medical Sciences; Tehran Iran

2. Department of Dermatology and Cutaneous Biology; The Sidney Kimmel Medical College; Thomas Jefferson University; Philadelphia PA USA

3. Molecular Medicine Division; Biotechnology Research Center; Pasteur Institute of Iran; Tehran Iran

4. Autoimmune Bullous Diseases Research Center; Department of Dermatology; Razi Hospital; Tehran University of Medical Sciences; Tehran Iran

5. Neurosurgery Department; Shariati Hospital; Tehran University of Medical Sciences; Tehran Iran

6. Radiology Department and Anatomic Science Research Center; Kashan University of Medical Sciences; Kashan Iran

7. Psychiatric Research Center; Roozbeh Hospital; Tehran University of Medical Sciences; Tehran Iran

Publisher

Wiley

Subject

Dermatology,Molecular Biology,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/exd.12620/fullpdf

Reference12 articles.

1. Lipoidosis cutis et mucosae

2. Lipoid proteinosis

3. Generalized dystonia and striatal calcifications with lipoid proteinosis

4. Epilepsy and migraine in a patient with Urbach–Wiethe disease

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3. MINOCA biomarkers: Non-atherosclerotic aspects;Clinica Chimica Acta;2023-11

4. Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families;Pediatric Dermatology;2022-08-04

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