A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.
Wieland
Ilse
I
Sabathil
Julia
J
Ostendorf
Anne
A
Rittinger
Olaf
O
Röpke
Albrecht
A
Winnepenninckx
Birgitta
B
Kooy
Frank
F
Holinski-Feder
Elke
E
Wieacker
Peter
P
D000293:Adolescent; D001665:Binding Sites; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D013577:Syndrome