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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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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Copyright 2003 British Journal of Ophthalmology
2003
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1771750/ https://ncbi.nlm.nih.gov/pubmed/12812894 |
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