Article
A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis.
The Turkish journal of pediatrics - 1 Jan 2019
Elmaoğulları Selin, Yıldız Adelet Elçin, Demir Selma, Gürkan Hakan, Uçaktürk Seyit Ahmet
Abstract excerpt
Elmaoğulları S, Yıldız AE, Demir S, Gürkan H, Uçaktürk SA. A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. Turk J Pediatr 2019; 61: 594-598. Osteopoikilosis (OPK) is a rare, benign condition characterized by osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrists, feet, ankles, pelvis, and scapulae. We report a 16-year-old boy and his mother incidentally...
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