title: [Intragenic deletions of NRXN1: three new case reports and a review of the phenotype].
abstract: OBJECTIVE
  To offer data on the phenotype determined by microdeletions of alpha exons in the NRXN1 gene.
  
  
  METHODS
  Three neuropaediatric cases of intragenic microdeletions of NRXN1 alpha are studied. The phenotype of these three cases is unspecific, with mild-moderate mental retardation, behavioural disorders and slight dysmorphic traits or malformations.
  
  
  CONCLUSIONS
  The phenotype found in the microdeletions of alpha exons of the NRXN1 gene is clearly distinguishable from the one found in the microdeletions of beta exons, with macrocephaly, epilepsy and mental retardation.
authors.affiliation: Centro de Genetica Humana, Alicante, Espana.
authors.forename: Francisco
authors.initials: F
authors.lastname: Galán-Sánchez
authors.forename: Vanessa
authors.initials: V
authors.lastname: Esteban-Cantó
authors.forename: Pedro
authors.initials: P
authors.lastname: Blaya-Fernández
authors.forename: Rocío
authors.initials: R
authors.lastname: Jadraque-Rodríguez
authors.forename: Irene
authors.initials: I
authors.lastname: Manchón-Trives
authors.forename: Luis
authors.initials: L
authors.lastname: Alcaraz-Más
mesh_terms: D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D002648:Child; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D019006:Neural Cell Adhesion Molecules; D010375:Pedigree; D010641:Phenotype
chemical_list: D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal; C539628:NRXN1 protein, human; D009419:Nerve Tissue Proteins; D019006:Neural Cell Adhesion Molecules