Variable skeletal phenotypes associated with biallelic variants in PRKG2
Alistair T Pagnamenta, Francisca Diaz-Gonzalez, Benito Banos-Pinero, et al.
Journal of Medical Genetics
DOI: 10.1136/jmedgenet-2021-108027
Musculoskeletal
Publications
A list of publications arising from our work is shown below. If you know of a relevant publication not listed here, please let us know via email.
5 publications
Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency
Eleanor Hay, Louise C. Wilson, Bethan Hoskins, Martin Samuels, Pinki Munot & Shamima Rahman
European Journal of Human Genetics
DOI: 10.1038/s41431-021-00932-8
Musculoskeletal
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in Caucasian Patients with Movement Disorders
Yau, Wai Yan; Vandrovcova, Jana; Sullivan, Roisin; et al.
Journal of Neurology, Neurosurgery, and Psychiatry
DOI: 10.1002/mds.28302
Musculoskeletal
Neurology
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
Thomas Bourinaris, Damian Smedley, Valentina Cipriani, et al.
European Journal of Human Genetics
DOI: 10.1038/s41431-020-00720-w
Musculoskeletal
Paediatrics
Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities
Juliane Winkelmann, Dora Steel, Michael Zech, et al.
Annals of Neurology
DOI: 10.1002/ana.25879
Musculoskeletal
