COH1 analysis and linkage study in two Japanese families with Cohen syndrome.
Kondo
I
I
Shimizu
A
A
Asakawa
S
S
Miyamoto
K
K
Yamagata
H
H
Tabara
Y
Y
Shimizu
N
N
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D005145:Face / Q000002:abnormalities; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007564:Japan; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics; D009503:Neutropenia / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D033921:Vesicular Transport Proteins
D008565:Membrane Proteins; C475722:VPS13B protein, human; D033921:Vesicular Transport Proteins