Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome. [electronic resource]
- European journal of medical genetics Jan 2014
- 32-6 p. digital
Publication Type: Case Reports; Journal Article
1878-0849
10.1016/j.ejmg.2013.10.005 doi
Abnormalities, Multiple--diagnosis Actins--genetics Craniofacial Abnormalities--diagnosis DNA Mutational Analysis Fatal Outcome Female Humans Infant, Newborn Malformations of Cortical Development--diagnosis Mutation, Missense