Abstract
Fewer than 100 cases of Richner-Hanhart syndrome have been reported. We describe two additional patients who have the classic clinical, biochemical, and microscopic features of this syndrome.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Amino Acid Metabolism, Inborn Errors* / diagnosis
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Amino Acid Metabolism, Inborn Errors* / therapy
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Eye Diseases / diagnosis
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Eye Diseases / therapy
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Humans
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Intellectual Disability* / diagnosis
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Intellectual Disability* / therapy
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Keratoderma, Palmoplantar* / diagnosis
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Keratoderma, Palmoplantar* / therapy
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Light / adverse effects
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Male
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Syndrome
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Time Factors
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Tyrosine Transaminase / deficiency*