Familial richner-Hanhart syndrome in Kuwait: twelve-year clinical reassessment by a multidisciplinary approach.
el-Badramany
M H
MH
Fawzy
A R
AR
Farag
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TI
D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D007730:Kuwait; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D013577:Syndrome; D014443:Tyrosine / Q000097:blood; D014444:Tyrosine Transaminase / Q000172:deficiency*
D014443:Tyrosine; D014444:Tyrosine Transaminase