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Article

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.

American journal of human genetics - 11 Feb 2011

Züchner Stephan, Dallman Julia, Wen Rong, Beecham Gary, Naj Adam, Farooq Amjad, Kohli Martin A, Whitehead Patrice L, Hulme William, Konidari Ioanna, Edwards Yvonne J K, Cai Guiqing, Peter Inga, Seo David, Buxbaum Joseph D, Haines Jonathan L, Blanton Susan, Young Juan, Alfonso Eduardo, Vance Jeffery M, Lam Byron L, Peričak-Vance Margaret A

Abstract excerpt

Increasingly, mutations in genes causing Mendelian disease will be supported by individual and small families only; however, exome sequencing studies have thus far focused on syndromic phenotypes characterized by low locus heterogeneity. In contrast, retinitis pigmentosa (RP) is caused by >50 kno...

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Identifiers

PMID: 21295283
DOI: 10.1016/j.ajhg.2011.01.001
PMCID: PMC3035708

Genes

DHDDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21295283-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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