A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families.
Cotarelo
R P
RP
Fano
O
O
Raducu
M
M
Peña
A
A
Tarilonte
P
P
Mateos
F
F
Simón
R
R
Cabello
A
A
Cruces
J
J
D000015:Abnormalities, Multiple / Q000201:enzymology* / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005190:Family; D006720:Homozygote; D006801:Humans; D007150:Immunohistochemistry; D008364:Mannosyltransferases / Q000235:genetics*; D008969:Molecular Sequence Data; D009132:Muscles / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D013030:Spain; D013577:Syndrome; D044465:White People / Q000235:genetics*
D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase