A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis
A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis
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Turkey: Hacettepe University Faculty of Medicine
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Language
English
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Turkey: Hacettepe University Faculty of Medicine
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Contents
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 sca...
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Full title
A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis
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TN_cdi_doaj_primary_oai_doaj_org_article_24105c3c926046819082b17932d91d7b
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_24105c3c926046819082b17932d91d7b
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ISSN
0041-4301
E-ISSN
2791-6421
DOI
10.24953/turkjped.2019.04.018