title: COH1 analysis and linkage study in two Japanese families with Cohen syndrome.
authors.forename: I
authors.initials: I
authors.lastname: Kondo
authors.forename: A
authors.initials: A
authors.lastname: Shimizu
authors.forename: S
authors.initials: S
authors.lastname: Asakawa
authors.forename: K
authors.initials: K
authors.lastname: Miyamoto
authors.forename: H
authors.initials: H
authors.lastname: Yamagata
authors.forename: Y
authors.initials: Y
authors.lastname: Tabara
authors.forename: N
authors.initials: N
authors.lastname: Shimizu
mesh_terms: 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
chemical_list: D008565:Membrane Proteins; C475722:VPS13B protein, human; D033921:Vesicular Transport Proteins