A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient
نویسندگان
چکیده
منابع مشابه
A novel missense mutation in exon 7 of the ECM1 gene in an Iranian lipoid proteinosis patient.
Lipoid proteinosis (LP) is a rare autosomal recessive disorder. Classical clinical features include warty skin infiltration, papules on the eyelids, skin scarring, as well as extracutaneous abnormalities such as hoarseness of the voice, epilepsy, and neuropsychiatric abnormalities. A defect in the ECM1 gene is responsible for this disease. A 21-year-old female patient from consanguineous ...
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BACKGROUND The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other tissues. Loss-of-function mutation in ECM1 causes a rare autosomal recessive disorder called lipoid proteinosis. Lipoid proteinosis is presented by varying degrees of skin scars, beaded papules along the eyelid margins, variable signs of hoarseness of voice and respiratory disorders. More than 25...
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ژورنال
عنوان ژورنال: Genetics and Molecular Research
سال: 2012
ISSN: 1676-5680
DOI: 10.4238/2012.november.14.2