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Genotype-phenotype correlation in hereditary multiple exostoses
Hereditary multiple exostoses (HME) is a genetically heterogeneous autosomal dominant disorder characterised by the development of bony protuberances mainly located on the long bones. Three HME loci have been mapped to chromosomes 8q24 (EXT1), 11p11-13 (EXT2), and 19p (EXT3). The EXT1 and EXT2 genes...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMJ Group
2001
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1757186/ https://ncbi.nlm.nih.gov/pubmed/11432960 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.7.430 |
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