1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
Lower
Karen M
KM
Solders
Göran
G
Bondeson
Marie-Louise
ML
Nelson
John
J
Brun
Arne
A
Crawford
Joanna
J
Malm
Gunilla
G
Börjeson
Mats
M
Turner
Gillian
G
Partington
Michael
M
Gécz
Jozef
J
D001120:Arginine / Q000235:genetics; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008297:Male; D038901:X-Linked Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D009765:Obesity / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D013577:Syndrome
D001120:Arginine