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A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis

A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_24105c3c926046819082b17932d91d7b

A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis

About this item

Full title

A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis

Publisher

Turkey: Hacettepe University Faculty of Medicine

Journal title

Turkish journal of pediatrics, 2019-07, Vol.61 (4), p.594-598

Language

English

Formats

Publication information

Publisher

Turkey: Hacettepe University Faculty of Medicine

More information

Scope and Contents

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...

Alternative Titles

Full title

A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_24105c3c926046819082b17932d91d7b

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_24105c3c926046819082b17932d91d7b

Other Identifiers

ISSN

0041-4301

E-ISSN

2791-6421

DOI

10.24953/turkjped.2019.04.018

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