Article
Association of mutations in FLNA with craniosynostosis.
European journal of human genetics : EJHG - 1 Dec 2015
Fennell Nathalie, Foulds Nicola, Johnson Diana S, Wilson Louise C, Wyatt Michelle, Robertson Stephen P, Johnson David, Wall Steven A, Wilkie Andrew O M
Abstract excerpt
Mutations of FLNA, an X-linked gene that encodes the cytoskeletal protein filamin A, cause diverse and distinct phenotypes including periventricular nodular heterotopia and otopalatodigital spectrum disorders (OPDS). Craniofacial abnormalities associated with OPDS include supraorbital hyperostosis, down-slanting palpebral fissures and micrognathia; craniosynostosis was previously described in association with...
Topics
- Child
- Child, Preschool
- Craniosynostoses
- Diagnosis, Differential
- Female
- Filamins
- Humans
- Infant
- Male
- Mutation, Missense
- Phenotype