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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Bibliografiske detaljer
Main Authors: Donnelly, Deirdre E, McConnell, Vivienne, Paterson, Anne, Morrison, Patrick J
Format: Artigo
Sprog:Inglês
Udgivet: The Ulster Medical Society 2010
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Paper
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3284715/
https://ncbi.nlm.nih.gov/pubmed/22375084
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