Contiguous mutation syndrome in the era of high-throughput sequencing

We investigated two siblings, born to consanguineous parents, with neurological features reminiscent of adaptor protein complex 4 (AP4) deficiency, an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, severe intellectual...

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Detalles Bibliográficos
Autores principales: Langouët, Maéva, Siquier-Pernet, Karine, Sanquer, Sylvia, Bole-Feysot, Christine, Nitschke, Patrick, Boddaert, Nathalie, Munnich, Arnold, Mancini, Grazia M S, Barouki, Robert, Amiel, Jeanne, Colleaux, Laurence
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444163/
https://www.ncbi.nlm.nih.gov/pubmed/26029708
http://dx.doi.org/10.1002/mgg3.134

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444163/
https://www.ncbi.nlm.nih.gov/pubmed/26029708
http://dx.doi.org/10.1002/mgg3.134

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