Associated Papers
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti A et al.
Human Mutation, 2021
34387910 (PubMed )
Supplement: HUMU-42-1384-s001.xlsx › TabS4_GenotypesLiterature
Expanding the phenome and variome of skeletal dysplasia.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Select a paper to view details