Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation.
Al-Dosari
Mohammed S
MS
Department of Pharmacognosy, College of Pharmacy Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University Department of Genetics, King Faisal Specialist Hospital and Research Center Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Alkuraya
Fowzan S
FS
D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors