Phenotype variation in Treacher Collins Syndrome: from missense to splice site mutations

Br J Oral Maxillofac Surg. 2013 Apr;51(3):276-7. doi: 10.1016/j.bjoms.2012.12.002. Epub 2013 Jan 23.

Authors

Daniel Richard van Gijn, Abigail S Tucker, Martyn T Cobourne

PMID: 23352328
DOI: 10.1016/j.bjoms.2012.12.002

No abstract available

Publication types

Letter
Comment

MeSH terms

Facial Bones / growth & development*
Humans
Mandibulofacial Dysostosis / genetics*
Skull / growth & development*