Moreno-De-Luca, Andres

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. [electronic resource] - Journal of medical genetics Feb 2011 - 141-4 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural

1468-6244

10.1136/jmg.2010.082263 doi


Abnormalities, Multiple--genetics
Adaptor Protein Complex 4--deficiency
Cerebral Palsy--genetics
Genes, Recessive
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability--genetics
Microarray Analysis
Microcephaly--genetics
Pedigree
Syndrome