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16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance
BACKGROUND: Pierre Robin sequence (PRS) is a condition present at birth. It is characterized by micrognathia, cleft palate, upper airway obstruction, and feeding problems. Multiple etiologies including genetic defects have been documented in patients with syndromic, non-syndromic, and isolated PRS....
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| Publicado no: | Mol Cytogenet |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4260201/ https://ncbi.nlm.nih.gov/pubmed/25493098 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0076-5 |
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