title: Deletion of the last exon of SHANK3 gene produces the full Phelan-McDermid phenotype: a case report.
authors.affiliation: University Children's Hospital, University Medical Centre Ljubljana, Slovenia. mmacedoni@gmail.com
authors.forename: Marta
authors.initials: M
authors.lastname: Macedoni-Lukšič
authors.forename: Danijela
authors.initials: D
authors.lastname: Krgović
authors.forename: Boris
authors.initials: B
authors.lastname: Zagradišnik
authors.forename: Nadja
authors.initials: N
authors.lastname: Kokalj-Vokač
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics; D005091:Exons; D006801:Humans; D007223:Infant; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D020161:Physical Chromosome Mapping
chemical_list: D009419:Nerve Tissue Proteins; C492357:SHANK3 protein, human