title: A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1.
authors.affiliation: Department of Paediatrics, Skåne University Hospital, Lund, Sweden.
authors.forename: Peter
authors.initials: P
authors.lastname: Holmquist
mesh_terms: D000483:Alleles; D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D002675:Child, Preschool; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D059785:Karyotype; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D019006:Neural Cell Adhesion Molecules; D011859:Radiography
chemical_list: D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal; C539628:NRXN1 protein, human; D009419:Nerve Tissue Proteins; D019006:Neural Cell Adhesion Molecules