Noncardiac DiGeorge syndrome diagnosed with multiplex ligation-dependent probe amplification: A case report
DiGeorge syndrome is not really a rare disease. A microdeletion of chromosome 22q11.2 is found in most patients. Sharing the same genetic cause, a wide spectrum of clinical manifestations such as conotruncal anomaly face syndrome, Cayler cardiofacial syndrome, and velocardiofacial syndrome have been...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2015-08-01
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| coleção: | Journal of the Formosan Medical Association |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S0929664612004007 |
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