- Hanan H Afifi,
- Khalda S Amr,
- Angie M S Tosson,
- Tarak A Hassan,
- Mennat I Mehrez,
- Ghada Y El-Kamah
Gene 2017 Jul 15. Epub 2017 Jul 15.
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene. Clinical features include varying degrees of skin thickening, hoarseness of voice and less frequently neuropsychiatric abnormalities. Twelve patients from ten unrelated families with a clinical diagnosis of lipoid proteinosis were enrolled in this study. Read More