Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss

Aim: To characterise the phenotype and identify the underlying genetic defect in a family with deafness segregating with a North Carolina-like macular dystrophy (NCMD). Methods: Details of the family were obtained from the Moorfields Eye Hospital genetic clinic database and comprised eight affected,...

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Autors principals: Francis, P J, Johnson, S, Edmunds, B, Kelsell, R E, Sheridan, E, Garrett, C, Holder, G E, Hunt, D M, Moore, A T
Format: Artigo
Idioma:Inglês
Publicat: Copyright 2003 British Journal of Ophthalmology 2003
Matèries:
Clinical Science - Extended Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1771750/
https://ncbi.nlm.nih.gov/pubmed/12812894
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