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Article

Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

Ophthalmology - 1 Jul 2014

MacKinnon Sarah, Oystreck Darren T, Andrews Caroline, Chan Wai-Man, Hunter David G, Engle Elizabeth C

Abstract excerpt

OBJECTIVE: To improve diagnostic assessment in Moebius syndrome by (1) creating more selective diagnostic subgroups and (2) conducting genetic evaluation in a large patient cohort. DESIGN: Prospective, observational study. PARTICIPANTS: Attendees of 3 consecutive Moebius syndrome conferences held in the United States, with a prior diagnosis of Moebius syndrome, were invited to participate. METHODS: Participants...

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Source

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Identifiers

PMID: 24612975
DOI: 10.1016/j.ophtha.2014.01.006
PMCID: PMC4082742

Genes

TUBB3
HOXB1
HOXA1

Provenance

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