Familial richner-Hanhart syndrome in Kuwait: twelve-year clinical reassessment by a multidisciplinary approach.
M H
MH
el-Badramany
A R
AR
Fawzy
T I
TI
Farag
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