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Paper Details

GGPS1-associated muscular dystrophy with and without hearing loss.
Ann Clin Transl Neurol
3
2022
GGPS1, GGPS1 deficiency, GGPS1-associated, geranylgeranyl diphosphate, geranylgeranyl diphosphate synthase 1, hearing loss, muscular dystrophy, ovarian insufficiency, ovarian insufficiency syndrome
Author NameAffiliation
Maha S ZakiClinical Genetics Department, National Research Centre
Sandrine Vuillaumier-Barrot
Anna SarkozyUniversity College London, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Great Ormond Street Hospital
Anna SarkozyMRC UCL International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD)
Francesco MuntoniUniversity College London, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Great Ormond Street Hospital
Francesco MuntoniMRC UCL International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD)
Francesco MuntoniNIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London
Henry HouldenUCL Queen Square Institute of Neurology
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