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Aspartylglucosaminuria

*Gene map locus 4q32-q33
AGU
Aspartylglucosaminidase deficiency
Aspartylglycosaminuria
Glycosylasparaginase deficiency
[Clinical features: progressive mental retardation]
[Inheritance: autosomal recessive]

Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
Journal of Medical Genetics
Journal of Medical Genetics
Journal of Medical Genetics

Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
Journal of Medical Genetics
Journal of Medical Genetics
Journal of Medical Genetics

 
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
Aspartylglycosaminuria - Kyphosis (kyphoscoliosis)
 
Journal of Medical Genetics
LysoSomal Learning
 


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Edited by Aldo Campana, April 16, 2014