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Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2
Recurrent lethal perinatal osteogenesis imperfecta may result from asymptomatic parental mosaicism. A previously unreported mutation in COL1A2 leads to recurrent cases of fetal osteogenesis imperfecta Sillence type IIA, which emphasizes the importance of clinical and genetic evaluation of mosaicism...
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| Publicado no: | Clin Case Rep |
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| Principais autores: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5054473/ https://ncbi.nlm.nih.gov/pubmed/27761249 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.658 |
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