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Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion
We report a patient with an undetermined leucodystrophy associated with type 1A oculocutaneous albinism (OCA). Type 1 OCA results from recessive mutations in the tyrosinase gene (TYR) located in 11q14.3. The patient was found by FISH to carry a deletion of at least the first exon of the TYR gene on...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Group
2001
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734723/ https://ncbi.nlm.nih.gov/pubmed/11134238 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.1.35 |
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