The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study

The minimum prevalence of lethal Osteogenesis imperfecta type II, thanatophoric dysplasia and achondroplasia were derived following detailed case note review of all perinatal lethal skeletal dysplasias (SD) in Northern Ireland over a 12 year period. Multiple sources of ascertainment, including genet...

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Detalles Bibliográficos
Autores principales: Donnelly, Deirdre E, McConnell, Vivienne, Paterson, Anne, Morrison, Patrick J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Ulster Medical Society 2010
Materias:
Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3284715/
https://www.ncbi.nlm.nih.gov/pubmed/22375084

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