Fine mapping of the dyskeratosis congenita locus in Xq28.
Dyskeratosis congenita (DC) is characterised by reticulate skin pigmentation, mucosal leucoplakia, and nail dystrophy. Bone marrow failure occurs in 50% of patients and is the principal cause of early mortality. In the majority of families the pattern of inheritance of DC is compatible with an X lin...
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| Publicado no: | J Med Genet |
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| Principais autores: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1996
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1050808/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9004129/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.33.12.993 |
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