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Expanding the novel neurocardiofacio(uro)digital MAPKAPK5?related developmental disorder?s genotype-phenotype correlation: patient report and 19-month follow-up.

ABSTRACT: 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.

INSTRUMENT(S): -

ORGANISM(S): Homo Sapiens

SUBMITTER: Bambino Gesu Children Hospital

PROVIDER: PRJEB50475 | EVA | 2022-01-30

REPOSITORIES: EVA

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			Action	DRS
	MAPKAPK5.vcf.gz	Vcf
	MAPKAPK5.vcf.gz.csi	Vcf
	MAPKAPK5.vcf.gz.tbi	Vcf

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