A novel missense mutation in the TRPS1 gene in a case of trichorhinophalangeal syndrome type I (TRPS1) with fish-like malodour.
Nakamura
M
M
Sugita
K
K
Tokura
Y
Y
D000015:Abnormalities, Multiple; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004247:DNA; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D020125:Mutation, Missense; D012097:Repressor Proteins; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors; D004247:DNA