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Baraitser and Winter syndrome with growth hormone deficiency
Baraitser–Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently...
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| Publicado no: | J Pediatr Neurosci |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Medknow Publications & Media Pvt Ltd
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4302548/ https://ncbi.nlm.nih.gov/pubmed/25624931 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.147583 |
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