Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease
Genetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.6: c.508C&g…
Genetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.6: c.508C&g…