title: De novo 11q deletion including SHANK2 in a patient with global developmental delay.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
authors.forename: Cherisse A
authors.initials: CA
authors.lastname: Marcou
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
authors.forename: April L
authors.initials: AL
authors.lastname: Studinski Jones
authors.affiliation: Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota.
authors.forename: Marine I
authors.initials: MI
authors.lastname: Murphree
authors.affiliation: Division of Women and Child Health, , Department of Paediatrics and Child Health, The AGA Khan University, Karachi, Pakistan.
authors.forename: Salman
authors.initials: S
authors.lastname: Kirmani
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
authors.forename: Nicole L
authors.initials: NL
authors.lastname: Hoppman
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004535:Ehlers-Danlos Syndrome / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics*
chemical_list: D009419:Nerve Tissue Proteins; C122162:SHANK2 protein, human