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PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

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Detalles Bibliográficos
Main Authors: Matera, I, Bachetti, T, Puppo, F, Di, D, Morandi, F, Casiraghi, G, Cilio, M, Hennekam, R, Hofstra, R, Schober, J, Ravazzolo, R, Ottonello, G, Ceccherini, I
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Group 2004
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735781/
https://ncbi.nlm.nih.gov/pubmed/15121777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2003.015412
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