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BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies
Linear growth failure can be caused by many different genetic abnormalities. In many cases, the genetic defect affects not only the growth plate, causing short stature, but also other organs/tissues causing additional clinical abnormalities. The proband was evaluated at 10 years of age for impaired...
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| Publicado no: | Clin Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5389939/ https://ncbi.nlm.nih.gov/pubmed/27748960 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12887 |
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