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Article

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.

American journal of medical genetics. Part A - 1 Oct 2014

Lonardo Fortunato, Di Natale Paola, Lualdi Susanna, Acquaviva Fabio, Cuoco Cristina, Scarano Francesca, Maioli Marianna, Pavone Luigi Michele, Di Gregorio Grazia, Filocamo Mirella, Scarano Gioacchino

Abstract excerpt

Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme, iduronate-2-sulfatase (IDS). Phenotypic expression of MPS II in female patients rarely occurs and may be the result of (i) structural abnormalities of the X chromosome, (ii) homozygosity for disease-causing mutations, or (iii) skewed X-chromosome inactivation, in which the...

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PMID: 25044788
DOI: 10.1002/ajmg.a.36667

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IDS

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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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