Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV
Periyasamy Radhakrishnan(Manipal Academy of Higher Education), Katta M. Girisha(Manipal Academy of Higher Education), Anju Shukla(Manipal Academy of Higher Education), Amita Moirangthem(Sanjay Gandhi Post Graduate Institute of Medical Sciences), Mary Mathew(Manipal Academy of Higher Education), Shalini S. Nayak(Manipal Academy of Higher Education)
Cited by 7
Related Papers
Nosology of genetic skeletal disorders: 2023 revision
|American Journal of Medical Genetics Part A|2023|386
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
|Journal of Medical Genetics|2014|171
Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease
|New England Journal of Medicine|2016|152
A dyadic approach to the delineation of diagnostic entities in clinical genomics
|The American Journal of Human Genetics|2021|116
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
|Journal of Human Genetics|2019|74