The fragile-X syndrome after the discovery of the FMR-1 gene. The clinical geneticist faced with the unravelled enigmas and persisting difficulties in genetic counseling.
Fryns
J P
JP
Curfs
L M
LM
Cassiman
J J
JJ
van den Berghe
H
H
D000328:Adult; D000368:Aged; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics* / Q000517:prevention & control; D005817:Genetic Counseling; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000517:prevention & control; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D016601:RNA-Binding Proteins
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human