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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Autori principali: Graham, John M., Spencer, Andrew H., Grinberg, Inessa, Niesen, Charles E., Platt, Lawrence D., Maya, Marcel, Namavar, Yasmin, Baas, Frank, Dobyns, William B.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Article
Accesso online: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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