A Novel <b><i>ECM1</i></b> Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature-Reference-Cited by-同舟云学术

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A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature

Published:2016-03-15 Issue:1 Volume:7 Page:26-31
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Rey Linda K.,Kohlhase Jürgen,Möllenhoff Katrin,Dekomien Gabriele,Epplen Jörg T.,Hoffjan Sabine

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics

Cited by 10 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. A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye;American Journal of Medical Genetics Part A;2024-06-06

2. Laryngeal features in Lipoid proteinosis: a systematic review and meta-analysis of individual participant data;European Archives of Oto-Rhino-Laryngology;2024-05-07

3. Multiple oral submucosal nodules in a young adult;Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology;2023-10

4. Lipoid Proteinosis (Urbach-Wiethe Syndrome);Neurocutaneous Disorders;2022

5. Ultrastructural aspects of the skin in lipoid proteinosis (Urbach-Wiethe disease);Anais Brasileiros de Dermatologia;2021-11

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