Article
Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
Molecular genetics and metabolism - 1 Mar 2012
Catarzi S, Giunti L, Papadia F, Gabrielli O, Guerrini R, Donati M A, Genuardi M, Morrone A
Abstract excerpt
Morquio A syndrome (MPS IVA) is a recessive lysosomal storage disorder (LSD) caused by mutations in the GALNS gene leading to the deficiency of lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Patients show a broad spectrum of phenotypes ranging from classical severe type to mild forms. Classical forms are characterized by severe bone dysplasia and usually normal intelligence. So far, more than...
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