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

Ulster Medical Journal

Volumn 79, Issue 3, 2010, Pages 114-118

  Donnelly, Deirdre E ^b   McConnell, Vivienne ^b   Paterson, Anne ^a   Morrison, Patrick J ^b  

^a Departments of Clinical Genetics and Paediatric Radiology   (United Kingdom)

^b ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACHONDROPLASIA; ARTICLE; AUTOPSY; BONE DYSPLASIA; CHILDHOOD MORTALITY; CONGENITAL HEART DISEASE; DIAGNOSTIC ACCURACY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC SCREENING; HUMAN; IRELAND; KARYOTYPING; LIVE BIRTH; OSTEOGENESIS IMPERFECTA; POPULATION RESEARCH; PREVALENCE; RADIODIAGNOSIS; THANATOPHORIC DWARFISM;

GENETIC TESTING; HUMANS; NORTHERN IRELAND; OSTEOGENESIS IMPERFECTA; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RETROSPECTIVE STUDIES; RISK ASSESSMENT; THANATOPHORIC DYSPLASIA;

EID: 78649788095     PISSN: 00416193     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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