Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making.
Filocamo
M
M
Laboratorio Diagnosi PrePostnatale Malattie Metaboliche, Istituto G. Gaslini, Largo G. Gaslini, 16147 Genoa, Italy. dppm@ospedale-gaslini.ge.it
Bonuccelli
G
G
Mazzotti
R
R
Corsolini
F
F
Stroppiano
M
M
Regis
S
S
Gatti
R
R
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