Novel B3GALTL mutation in Peters-plus Syndrome.
J
J
Dassie-Ajdid
A
A
Causse
A
A
Poidvin
M
M
Granier
J
J
Kaplan
L
L
Burglen
D
D
Doummar
P
P
Teisseire
A
A
Vigouroux
F
F
Malecaze
P
P
Calvas
N
N
Chassaing
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