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Article

Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8.

Journal of medical genetics - 1 Dec 2004

Ausseil J, Loredo-Osti J C, Verner A, Darmond-Zwaig C, Maire I, Poorthuis B, van Diggelen O P, Hudson T J, Fujiwara T M, Morgan K, Pshezhetsky A V

Abstract excerpt

Mucopolysaccharidosis type IIIC (MPS IIIC, or Sanfilippo syndrome C) is a rare lysosomal storage disorder caused by a deficiency of acetyl-coenzyme A:alpha-glucosaminide-N-acetyltransferase. Patients develop progressive neuropsychiatric problems, mental retardation, hearing loss, and relatively minor visceral manifestations. The pattern of transmission is consistent with an autosomal recessive mode of...

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Identifiers

PMID: 15591281
DOI: 10.1136/jmg.2004.021501
PMCID: PMC1735628

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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