Ehlers‐Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation

BACKGROUND: The Ehlers‐Danlos syndrome (EDS) comprises a group of hereditary connective tissue disorders. Periventricular nodular heterotopia (PNH) is a human neuronal migration disorder characterised by seizures and conglomerates of neural cells around the lateral ventricles of the brain, caused by...

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Detalhes bibliográficos
Main Authors: Gómez‐Garre, P, Seijo, M, Gutiérrez‐Delicado, E, del Río, M Castro, de la Torre, C, Gómez‐Abad, C, Morales‐Corraliza, J, Puig, M, Serratosa, J M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563248/
https://ncbi.nlm.nih.gov/pubmed/15994863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.029173
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