Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia.

Abstract excerpt

A number of different disorders involving first and second branchial arch anomalies have been described as distinct entities, including Treacher-Collins-Franceschetti syndrome, Goldenhar syndrome, Nager syndrome and Miller syndrome. The significant phenotypic overlap between these disorders raises the issue of a common developmental origin. After the identification of mutations in TCOF1 as a general cause of the...

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