title: 2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragmatic hernia.
authors.affiliation: Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA 94143-0748, USA.
authors.forename: Karla
authors.initials: K
authors.lastname: Bermudez-Wagner
authors.forename: Linda J B
authors.initials: LJ
authors.lastname: Jeng
authors.forename: Anne M
authors.initials: AM
authors.lastname: Slavotinek
authors.forename: Erica F
authors.initials: EF
authors.lastname: Sanford
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001827:Body Height / Q000235:genetics; D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006548:Hernia, Diaphragmatic / Q000235:genetics; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics*; D019006:Neural Cell Adhesion Molecules
chemical_list: D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal; C539628:NRXN1 protein, human; D009419:Nerve Tissue Proteins; D019006:Neural Cell Adhesion Molecules