Cerebellar hypoplasia and Cohen syndrome: a confirmed association. [electronic resource]
- American journal of medical genetics. Part A Sep 2010
- 2390-3 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.33569 doi
Brain--pathology Cerebellar Diseases Cerebellum--abnormalities Child DNA Mutational Analysis Developmental Disabilities--diagnosis Fingers--abnormalities Humans Infant Infant, Newborn Intellectual Disability--diagnosis Magnetic Resonance Imaging Male Microcephaly--diagnosis Muscle Hypotonia--diagnosis Myopia--diagnosis Obesity--diagnosis Retinal Degeneration