Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
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DOI: 10.1016/j.ejmg.2016.11.008
Abstract: Loss of function mutations in CTNNB1 have been reported in individuals with intellectual disability [MIM #615075] associated with peripheral spasticity, microcephaly and central hypotonia, suggesting a recognisable phenotype associated with haploinsufficiency for this gene. Trio… read more here.
Keywords: loss function; novo loss; function mutations; clinical features ... See more keywords