Associated Papers
First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum.
Thamissarakul S et al.
Case Reports in Genetics, 2026
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
Balasubramanian K et al.
American Journal of Medical Genetics. Part A, 2017
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