Article
Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
American journal of medical genetics. Part A - 1 Dec 2015
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
Abstract excerpt
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 in FOXG1-related disorders is assumed to be low. Here, we describe three unrelated sets of full siblings with...
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