Article
Dilated cardiomyopathy and ovarian dysgenesis in a patient with Malouf syndrome: a case report.
Molecular medicine reports - 1 Nov 2013
Gersak Ksenija, Strgulc Marusa, Gorjup Vojka, Dolenc-Strazar Zvezdana, Jurcic Vesna, Penny Daniel J, Fan Yuxin
Abstract excerpt
Malouf syndrome is a rare congenital disorder involving the heart, genitalia, skin and skeletal characteristics. In the present study, we report on the sporadic case of a young female with dilated cardiomyopathy, hypergonadotropic hypogonadism, a small chin, bilateral blepharoptosis, marfanoid elongated fingers and hypothyroidism. Malouf syndrome may be caused by heterozygous mutations in the lamin A/C (LMNA)...
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