Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features
Tüysüz B, Bilguvar K, Koçer N, Yalçınkaya C, Çağlayan O, Gül E, Şahin S, Çomu S, Günel M. Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features. American Journal Of Medical Genetics Part A 2014, 164: 1677-1685. PMID: 24700674, DOI: 10.1002/ajmg.a.36514.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsBrainChildDNA Mutational AnalysisDNA-Binding ProteinsFaciesFemaleGenes, RecessiveGenetic Association StudiesHomozygoteHumansMagnetic Resonance ImagingMaleMutationNeuroimagingPedigreePhenotypeQuadriplegiaRNA-Binding ProteinsSiblingsConceptsAdaptor protein complex 4Tetraplegic cerebral palsySevere intellectual disabilitySpastic tetraplegiaCerebral palsySpastic tetraplegic cerebral palsyIntellectual disabilityStereotypic laughterCranial imaging findingsWhite matter volumeWhole-exome sequencingNovel homozygous mutationAsymmetrical ventriculomegalyCranial MRIImaging findingsClinical findingsNeuroimaging featuresBrain abnormalitiesCommon findingCorpus callosumAutosomal recessive phenotypePairs of siblingsPatientsSimilar facial featuresMatter volume