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 language | English |
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Pages (from-to) | 228-234 |
Journal | Pediatric and developmental pathology |
Volume | 14 |
Issue number | 3 |
DOIs | |
Publication status | Published - 2011 |