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Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum
The relatively rare proximal microdeletion of 17q12 (including deletion of the HNF1B gene) is associated with the renal cysts and diabetes syndrome. Recent reports have suggested that there may also be an association between this microdeletion and learning difficulties/autism. This case report descr...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3326281/ https://ncbi.nlm.nih.gov/pubmed/22511894 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000335344 |
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