Novel B3GALTL mutation in Peters-plus Syndrome.
Dassie-Ajdid
J
J
Causse
A
A
Poidvin
A
A
Granier
M
M
Kaplan
J
J
Burglen
L
L
Doummar
D
D
Teisseire
P
P
Vigouroux
A
A
Malecaze
F
F
Calvas
P
P
Chassaing
N
N
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000595:Amino Acid Sequence; D004392:Dwarfism / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D005700:Galactosyltransferases / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D013577:Syndrome
D005700:Galactosyltransferases