Associated Papers
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
Asadollahi R et al.
European Journal of Medical Genetics, 2017
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Caro-Llopis A et al.
Pediatric Research, 2016
Redefining the MED13L syndrome.
Adegbola A et al.
European Journal of Human Genetics : Ejhg, 2015
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