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A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association
Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2001
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734782/ https://ncbi.nlm.nih.gov/pubmed/11748304 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.12.820 |
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