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Description
Refsum disease (HMSN type 4, phytanoyl-CoA hydroxylase deficiency, PAHX gene) presents with cataracts, retinitis pigmentosa, sensorineural deafness, chronic hypertrophic neuropathy, and ataxia, and variable anosmia, cardiomyopathy, and ichthyosiform desquamation

A., Thrush, A

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Mitral annular disjunction in myxomatous mitral valve disease: a relevant abnormality recognizable by transthoracic echocardiography