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Article

Whole-exome sequencing expands the phenotype of Hunter syndrome.

Clinical genetics - 1 Aug 2014

Nikkel S M, Huang L, Lachman R, Beaulieu C L, Schwartzentruber J, Majewski J, Geraghty M T, Boycott K M

Abstract excerpt

Whole-exome sequencing (WES) has proven its utility in finding novel genes associated with rare conditions and its usefulness is being further demonstrated in expanding the phenotypes of well known diseases. We present here a family with a previously undiagnosed X-linked condition characterized by progressive restriction of joint range of motion, prominence of the supraorbital ridge, audiology issues and hernias....

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PMID: 23844659
DOI: 10.1111/cge.12236

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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