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Article

Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.

The Journal of pathology - 1 Sept 2011

Schrader Kasmintan A, Heravi-Moussavi Alireza, Waters Paula J, Senz Janine, Whelan James, Ha Gavin, Eydoux Patrice, Nielsen Torsten, Gallagher Barry, Oloumi Arusha, Boyd Niki, Fernandez Bridget A, Young Terry-Lynn, Jones Steven Jm, Hirst Martin, Shah Sohrab P, Marra Marco A, Green Jane, Huntsman David G

Abstract excerpt

Linkage analysis with subsequent candidate gene sequencing is typically used to diagnose novel inherited syndromes. It is now possible to expedite diagnosis through the sequencing of all coding regions of the genome (the exome) or full genomes. We sequenced the exomes of four members of a family presenting with spondylo-epiphyseal dysplasia and retinitis pigmentosa and identified a six-base-pair (6-bp) deletion...

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Source

Identifiers

PMID: 21792934
DOI: 10.1002/path.2941

Genes

GNPTG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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