Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes

Mutations in the X-linked gene doublecortin lead to “double cortex” syndrome (DC) in females and to X-linked lissencephaly (XLIS) in males. Because most patients with DC and XLIS are sporadic, representing de novo doublecortin mutations, we considered that some of these patients could be somatic or...

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Main Authors: Gleeson, Joseph G., Minnerath, Sharon, Kuzniecky, Ruben I., Dobyns, William B., Young, Ian D., Ross, M. Elizabeth, Walsh, Christopher A.
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2000
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287517/
https://ncbi.nlm.nih.gov/pubmed/10915612
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