Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III. Dentomaxillofac Radiol 2013;42:22822014.
Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities.
Oral findings in patients with mucolipidosis type III. Braz Dent J 2012;23:461-6.
Mucolipidosis type III [alpha]/[beta] (ML III, also known as pseudo-Hurler polydystrophy) is a rare autosomal recessive disorder of lysosomal hydrolase trafficking that displays prominent skeletal involvement.
Mucolipidosis type III [alpha]/[beta] is a rare autosomal recessive lysosomal storage disease with prominent skeletal involvement.
Mucolipidosis type III [gamma],a disorder clinically indistinguishable from ML III, results from mutations in the gene coding for the [gamma] subunit for substrate recognition and binding.
Combined tarsal and carpal tunnel syndrome in mucolipidosis type III: a case study and review.