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Article

Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.

Human mutation - 1 Feb 2003

Udar Nitin, Yelchits Svetlana, Chalukya Meenal, Yellore Vivek, Nusinowitz Steve, Silva-Garcia Rosamaria, Vrabec Tamara, Hussles Maumenee Irene, Donoso Larry, Small Kent W

Abstract excerpt

Cone rod dystrophy 5 (CORD5) is an autosomal dominant retinal disease that primarily affects cone function. The locus has previously been mapped to human chromosome 17p12-p13 between the markers D17S926/D17S849 and D17S945/D17S804. One of our "unaffected" recombinant individual from family 1175 was subsequently found to cross through this interval. Reexamination revealed that he was in fact mildly affected. This...

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PMID: 12552567
DOI: 10.1002/humu.9109

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

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