Cerebellar hypoplasia and Cohen syndrome: a confirmed association.
Waite
Alexander
A
The School of Biomedicine, Faculty of Medical and Human Sciences, School of Medicine, University of Manchester, Manchester, UK.
Somer
Mirja
M
O'Driscoll
Mary
M
Millen
Kathleen
K
Manson
Forbes D C
FD
Chandler
Kate E
KE
D001921:Brain / Q000473:pathology; D002526:Cerebellar Diseases; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005385:Fingers / Q000002:abnormalities / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009216:Myopia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009765:Obesity / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D012162:Retinal Degeneration