Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta
- 1 September 2020
- journal article
- editorial
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 131 (1-2) , 114-115
Abstract
No abstract availableThis publication has 6 references indexed in Scilit:
- DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrumOsteoporosis International, 2016
- Targeted Sequencing of a Pediatric Metabolic Bone Gene Panel Using a Desktop Semiconductor Next-Generation SequencerCalcified Tissue International, 2014
- Medical Genetics at McGill: The History of a Pioneering Research GroupCanadian Journal of Health History, 2013
- Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritanceGenetics in Medicine, 2011
- Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosiac parent exhibits phenotypic features of a mild form of the diseaseHuman Mutation, 1992
- Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.Proceedings of the National Academy of Sciences, 1986