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Updated: Aug 18, 2026

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
A distinctive syndrome of brachycephaly, deafness, cataracts and mental retardation
G K Suthers1, A E Earley, S M Huson
1Molecular Genetics Group, John Radcliffe Hospital, Oxford, UK.
Abstract:
A boy with brachycephaly without craniosynostosis, raised intracranial pressure, deafness, cataracts, and global developmental delay is described.
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