Identification and in silico analysis of GALNS mutations causing Morquio A syndrome in eight consanguineous families

Genetic deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) due to mutations in the GALNS gene results in the pathogenesis of Morquio A syndrome. To date, more than 200 mutations have been reported in GALNS, resulting in variable clinical features.
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Identification and in silico analysis of GALNS mutations causing Morquio A syndrome in eight consanguineous families