Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity

Background: To examine the contribution of mutations within the Norrie disease (NDP) gene to the clinically similar retinal diseases Norrie disease, X‐linked familial exudative vitreoretinopathy (FEVR), Coat’s disease and retinopathy of prematurity (ROP). Methods: A dataset comprising 13 Norrie‐FE...

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Veröffentlicht in:	Clinical & experimental ophthalmology 2006-09, Vol.34 (7), p.682-688
Hauptverfasser:	Dickinson, Joanne L, Sale, Michèle M, Passmore, Abraham, FitzGerald, Liesel M, Wheatley, Catherine M, Burdon, Kathryn P, Craig, Jamie E, Tengtrisorn, Supaporn, Carden, Susan M, Maclean, Hector, Mackey, David A
Format:	Artikel
Sprache:	eng
Schlagworte:	5' Untranslated Regions - genetics Adolescent Adult Child Chromatography, High Pressure Liquid Deafness - genetics Eye Proteins - genetics Female Gestational Age Humans Infant, Newborn Intellectual Disability - genetics Male Middle Aged Mutation, Missense Nerve Tissue Proteins - genetics Norrie disease Retinal Diseases - genetics retinopathy of prematurity Retinopathy of Prematurity - genetics Sequence Analysis, DNA Vitreoretinopathy, Proliferative - genetics X-linked familial exudative vitreoretinopathy
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Zusammenfassung:	Background: To examine the contribution of mutations within the Norrie disease (NDP) gene to the clinically similar retinal diseases Norrie disease, X‐linked familial exudative vitreoretinopathy (FEVR), Coat’s disease and retinopathy of prematurity (ROP). Methods: A dataset comprising 13 Norrie‐FEVR, one Coat’s disease, 31 ROP patients and 90 ex‐premature babies of
ISSN:	1442-6404 1442-9071
DOI:	10.1111/j.1442-9071.2006.01314.x