[Intragenic deletions of NRXN1: three new case reports and a review of the phenotype].

Abstract excerpt

AIM: To offer data on the phenotype determined by microdeletions of alpha exons in the NRXN1 gene. CASE REPORTS: 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...

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