Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.
Pediatr Dev Pathol
; 14(3): 228-34, 2011.
Article
em En
| MEDLINE
| ID: mdl-20946018
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
/
Newborn
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article