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.
Tallab
T M
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Department of Medicine, College of Medicine, King Saud University, Abha, Saudi Arabia.
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