Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size

Mutations in the ASPM gene at the MCPH5 locus are expected to be the most common cause of human autosomal recessive primary microcephaly (MCPH), a condition in which there is a failure of normal fetal brain development, resulting in congenital microcephaly and mental retardation. We have performed t...

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Autores principales: Bond, Jacquelyn, Scott, Sheila, Hampshire, Daniel J., Springell, Kelly, Corry, Peter, Abramowicz, Marc J., Mochida, Ganesh H., Hennekam, Raoul C. M., Maher, Eamonn R., Fryns, Jean-Pierre, Alswaid, Abdulrahman, Jafri, Hussain, Rashid, Yasmin, Mubaidin, Ammar, Walsh, Christopher A., Roberts, Emma, Woods, C. Geoffrey
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2003
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180496/
https://ncbi.nlm.nih.gov/pubmed/14574646
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