Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome.
Karmiloff-Smith
A
A
Grant
J
J
Ewing
S
S
Carette
M J
MJ
Metcalfe
K
K
Donnai
D
D
Read
A P
AP
Tassabehji
M
M
D000328:Adult; D000818:Animals; D002460:Cell Line; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003071:Cognition / Q000502:physiology; D005260:Female; D005838:Genotype; D006801:Humans; D006822:Hybrid Cells; D051379:Mice; D018895:Microsatellite Repeats; D010641:Phenotype; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D018980:Williams Syndrome / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology