Familial Recurrences of FOXG1-Related Disorder: Evidence for Mosaicism

FOXG1-related disorders are caused by heterozygous mutations in FOXG1 and result in a spectrum of neurodevelopmental phenotypes including postnatal microcephaly, intellectual disability with absent speech, epilepsy, chorea, and corpus callosum abnormalities. The recurrence risk for de novo mutations...

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Udgivet i:Am J Med Genet A
Main Authors: McMahon, Kelly Q., Papandreou, Apostolos, Ma, Mandy, Barry, Brenda J., Mirzaa, Ghayda M., Dobyns, William B., Scott, Richard H., Trump, Natalie, Kurian, Manju A., Paciorkowski, Alex R.
Format: Artigo
Sprog:Inglês
Udgivet: 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4715619/
https://ncbi.nlm.nih.gov/pubmed/26364767
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37353
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