title: Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making.
authors.affiliation: Laboratorio Diagnosi PrePostnatale Malattie Metaboliche, Istituto G. Gaslini, Largo G. Gaslini, 16147 Genoa, Italy. dppm@ospedale-gaslini.ge.it
authors.forename: M
authors.initials: M
authors.lastname: Filocamo
authors.forename: G
authors.initials: G
authors.lastname: Bonuccelli
authors.forename: R
authors.initials: R
authors.lastname: Mazzotti
authors.forename: F
authors.initials: F
authors.lastname: Corsolini
authors.forename: M
authors.initials: M
authors.lastname: Stroppiano
authors.forename: S
authors.initials: S
authors.lastname: Regis
authors.forename: R
authors.initials: R
authors.lastname: Gatti
mesh_terms: D000483:Alleles; D002493:Central Nervous System Diseases / Q000175:diagnosis / Q000235:genetics; D003657:Decision Making; D003937:Diagnosis, Differential; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D005817:Genetic Counseling; D005838:Genotype; D006801:Humans; D007223:Infant; D007558:Italy; D009030:Mosaicism / Q000235:genetics* / Q000473:pathology; D016296:Mutagenesis; D010641:Phenotype; D017354:Point Mutation