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

Fleur S. van Dijk, Peter G. J. Nikkels, Nicolette S. den Hollander, Isabel M. Nesbitt, Rick R. van Rijn, Jan M. Cobben, Gerard Pals

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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
Original languageEnglish
Pages (from-to)228-234
JournalPediatric and developmental pathology
Volume14
Issue number3
DOIs
Publication statusPublished - 2011

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