title: Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.
authors.affiliation: MVZ Endokrinologikum Hannover, Hannover, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Gadzicki
authors.affiliation: Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Döcker
authors.affiliation: CeGaT GmbH, Tübingen, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Schubach
authors.affiliation: CeGaT GmbH, Tübingen, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Menzel
authors.affiliation: MVZ Endokrinologikum Hannover, Hannover, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Schmorl
authors.affiliation: MVZ genteQ, Hamburg, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Stellmer
authors.affiliation: Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany.|CeGaT GmbH, Tübingen, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Biskup
authors.affiliation: Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany.
authors.forename: D
authors.initials: D
authors.lastname: Bartholdi
mesh_terms: D002675:Child, Preschool; D019066:Facies; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D010641:Phenotype; D033921:Vesicular Transport Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C491914:PACS1 protein, human; D033921:Vesicular Transport Proteins