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MOLECULAR AND NEUROIMAGING FINDINGS IN PONTOCEREBELLAR HYPOPLASIA TYPE 2 (PCH2): IS PRENATAL DIAGNOSIS POSSIBLE?
The pontocerebellar hypoplasias (PCH) are a group of early-onset, autosomal recessive disorders resulting in abnormal growth and function of the brainstem and cerebellum. PCH type 2 (PCH2) is characterized by respiratory and feeding difficulties at birth, extrapyramidal dyskinesia, severe developmen...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2931360/ https://ncbi.nlm.nih.gov/pubmed/20803644 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33579 |
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