Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome.
Baumstark
A
A
Abt Humangenetik, Universität Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany.
Lower
K M
KM
Sinkus
A
A
Andriuskeviciute
I
I
Jurkeniene
L
L
Gécz
J
J
Just
W
W
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000595:Amino Acid Sequence; D001483:Base Sequence; D041321:Chromosomes, Human, X / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004423:Ear / Q000002:abnormalities; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006177:Gynecomastia / Q000473:pathology; D006801:Humans; D007006:Hypogonadism / Q000473:pathology; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D008297:Male; D008969:Molecular Sequence Data; D009765:Obesity / Q000473:pathology; D010375:Pedigree; D012640:Seizures / Q000473:pathology*; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid; D013577:Syndrome
D004247:DNA