A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

BACKGROUND: Cerebral palsy (CP) is a heterogeneous neurodevelopmental disorder associated with intellectual disability in one-third of cases. Recent findings support Mendelian inheritance in subgroups of patients with the disease. The purpose of this study was to identify a novel genetic cause of pa...

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Detalles Bibliográficos
Autores principales: Jameel, Muhammad, Klar, Joakim, Tariq, Muhammad, Moawia, Abubakar, Altaf Malik, Naveed, Seema Waseem, Syeda, Abdullah, Uzma, Naeem Khan, Tahir, Raininko, Raili, Baig, Shahid Mahmood, Dahl, Niklas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4292821/
https://www.ncbi.nlm.nih.gov/pubmed/25496299
http://dx.doi.org/10.1186/s12881-014-0133-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4292821/
https://www.ncbi.nlm.nih.gov/pubmed/25496299
http://dx.doi.org/10.1186/s12881-014-0133-2

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