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

Am J Med Genet A. 2021 Dec;185(12):3924-3925. doi: 10.1002/ajmg.a.62406. Epub 2021 Jun 23.

Authors

Nisha Patel¹, Amira Nabil², Muneera Alshammari³, Fowzan S Alkuraya^{1

4}

Affiliations

¹ Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
² Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
³ Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia.
⁴ Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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

No abstract available

MeSH terms

Adolescent
Child
Dysphonia / genetics*
Dysphonia / pathology
Exons / genetics
Extracellular Matrix Proteins / genetics*
Female
Genetic Predisposition to Disease
Hoarseness / genetics*
Hoarseness / pathology
Humans
Lipoid Proteinosis of Urbach and Wiethe / genetics
Male
Pedigree
Voice Disorders / genetics*
Voice Disorders / pathology

Substances

ECM1 protein, human
Extracellular Matrix Proteins