Broader geographical spectrum of Cohen syndrome due to COH1 mutations.
Mochida
G H
GH
Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Rajab
A
A
Eyaid
W
W
Lu
A
A
Al-Nouri
D
D
Kosaki
K
K
Noruzinia
M
M
Sarda
P
P
Ishihara
J
J
Bodell
A
A
Apse
K
K
Walsh
C A
CA
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D000818:Animals; D001483:Base Sequence; D002531:Cerebellum / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D016368:Frameshift Mutation; D005602:France; D005838:Genotype; D006801:Humans; D017403:In Situ Hybridization; D008607:Intellectual Disability / Q000473:pathology*; D007564:Japan; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008831:Microcephaly / Q000473:pathology*; D009154:Mutation; D020125:Mutation, Missense; D009850:Oman; D010375:Pedigree; D010641:Phenotype; D012529:Saudi Arabia; D017384:Sequence Deletion; D013577:Syndrome; D033921:Vesicular Transport Proteins
D008565:Membrane Proteins; C475722:VPS13B protein, human; D033921:Vesicular Transport Proteins; D004247:DNA