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Article

Hoarse voice in children as the presenting feature of ECM1-related lipoid proteinosis.

American journal of medical genetics. Part A - 1 Dec 2021

Patel Nisha, Nabil Amira, Alshammari Muneera, Alkuraya Fowzan S

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Identifiers

PMID: 34159730
DOI: 10.1002/ajmg.a.62406

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Hoarse voice in children as the presenting feature of ECM1-related lipoid proteinosis.PMID 34159730Read ↗

A novel splice-site ECM1 gene mutation in a Lebanese girl with lipoid proteinosis.Semantic proximity Read ↗

Lipoid proteinosis: A clinical and molecular study in Egyptian patients.Semantic proximity Read ↗

Oral and maxillofacial manifestations of lipoid proteinosis with a novel ECM1 mutation: case report and literature review.Semantic proximity Read ↗

Otolaryngological manifestations and genetic characteristics of lipoid proteinosis.Semantic proximity Read ↗

Moniliform blepharosis in lipoid proteinosis with a homozygous ECM1 gene mutation.Semantic proximity Read ↗

Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA.Semantic proximity Read ↗

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: ECM1. Disease: Lipoid Proteinosis.Semantic proximity Read ↗

A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye.Semantic proximity Read ↗

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.Semantic proximity Read ↗

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.Semantic proximity Read ↗

A novel homozygous 62-bp insertion in ECM1 causes lipoid proteinosis in a multigeneration Pakistani family.Semantic proximity Read ↗

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