Neurocardiofacio(uro)digital MAPKAPK5–related developmental disorder
Expanding the novel neurocardiofacio(uro)digital MAPKAPK5–related developmental disorder's genotype-phenotype correlation: patient report and 19-month follow-up.
Expanding the MAPKAPK5 genotype-phenotype correlation whose impairment in human development has been recently described as leading to a severe developmental disorder mainly characterized by neurological, cardiac, and facial anomalies combined with fingers and toe anomalies.
Expanding the MAPKAPK5 genotype-phenotype correlation whose impairment in human development has been recently described as leading to a severe developmental disorder mainly characterized by neurological, cardiac, and facial anomalies combined with fingers and toe anomalies.