Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

Eker, Hatice Koçak

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