Lethal/Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings
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 indica...
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| Veröffentlicht in: | Pediatric and developmental pathology 2011-05, Vol.14 (3), p.228-234 |
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| container_title | Pediatric and developmental pathology |
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| creator | van Dijk, Fleur S. Nikkels, Peter G.J. den Hollander, Nicolette S. Nesbitt, Isabel M. van Rijn, Rick R. Cobben, Jan M. Pals, Gerard |
| description | 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. |
| doi_str_mv | 10.2350/10-03-0806-CR.1 |
| format | Article |
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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.</abstract><cop>Los Angeles, CA</cop><pub>SAGE Publications</pub><pmid>20946018</pmid><doi>10.2350/10-03-0806-CR.1</doi><tpages>7</tpages></addata></record> |
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| ispartof | Pediatric and developmental pathology, 2011-05, Vol.14 (3), p.228-234 |
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| language | eng |
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| subjects | Bone and Bones - pathology DNA Mutational Analysis Family Female Humans Infant, Newborn Male Membrane Glycoproteins - genetics Mutation Osteogenesis Imperfecta - genetics Osteogenesis Imperfecta - pathology Pedigree Proteoglycans - genetics Reverse Transcriptase Polymerase Chain Reaction Turkey |
| title | Lethal/Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings |
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