Richner-Hanhart syndrome: importance of early diagnosis and early intervention.
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.
Department of Medicine, College of Medicine, King Saud University, Abha, Saudi Arabia.
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D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000628:therapy; D005128:Eye Diseases / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000628:therapy; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000628:therapy; D008027:Light / Q000009:adverse effects; D008297:Male; D013577:Syndrome; D013997:Time Factors; D014444:Tyrosine Transaminase / Q000172:deficiency*
D014444:Tyrosine Transaminase