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Pediatr Dev Pathol. 2011 May-Jun;14(3):228-34. doi: 10.2350/10-03-0806-CR.1. Epub 2010 Oct 14.

Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.

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1
Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands. fs.vandijk2@vumc.nl

Abstract

We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may indicate that the histology of LEPRE1 -associated OI is indistinguishable from COL1A1/2 -, CRTAP -, and PPIB -related OI.

PMID:
20946018
DOI:
10.2350/10-03-0806-CR.1
[Indexed for MEDLINE]
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