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A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome
Diamond-Blackfan anaemia (DBA) is a constitutional red blood cell hypoplasia which may be associated with a variety of developmental abnormalities. A gene for DBA was recently mapped to chromosome 19q13.2 and subsequently cloned. Analysis of 19q marker alleles in DNA of sporadic DBA cases showed de...
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| Главные авторы: | , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BMJ Group
2000
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734524/ https://ncbi.nlm.nih.gov/pubmed/10662814 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.2.128 |
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