Dysregulation of FOXG1 pathway in a 14q12 microdeletion case.


"FOXG1 syndrome" includes postnatal microcephaly, severe intellectual disability with absence of language and agenesis of the corpus callosum. When the syndrome is associated with large 14q12q13 deletions, the patients present characteristic facial dysmorphism. Although all reports were based on genomic analysis, recently a FOXG1 regulatory elements… (More)
DOI: 10.1002/ajmg.a.36170


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