Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele.
Di Natale
P
P
Villani
G R
GR
Esposito
S
S
Balzano
N
N
Filocamo
M
M
Gatti
R
R
D000483:Alleles; D015193:Chorionic Villi Sampling; D005260:Female; D006801:Humans; D009084:Mucopolysaccharidosis III / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D011247:Pregnancy