Article
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Journal of medical genetics - 1 Sept 2021
Ravenscroft Gina, Clayton Joshua S, Faiz Fathimath, Sivadorai Padma, Milnes Di, Cincotta Rob, Moon Phillip, Kamien Ben, Edwards Matthew, Delatycki Martin, Lamont Phillipa J, Chan Sophelia Hs, Colley Alison, Ma Alan, Collins Felicity, Hennington Lucinda, Zhao Teresa, McGillivray George, Ghedia Sondhya, Chao Katherine, O'Donnell-Luria Anne, Laing Nigel G, Davis Mark R
Abstract excerpt
BACKGROUND: Fetal akinesia and arthrogryposis are clinically and genetically heterogeneous and have traditionally been refractive to genetic diagnosis. The widespread availability of affordable genome-wide sequencing has facilitated accurate genetic diagnosis and gene discovery in these conditions. METHODS: We performed next generation sequencing (NGS) in 190 probands with a diagnosis of arthrogryposis multiplex...
Topics
- Alleles
- Amino Acid Sequence
- Amino Acid Substitution
- Arthrogryposis
- Chromosome Mapping
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease