Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.
Piccione
Maria
M
Dipartimento Materno Infantile, Università degli Studi di Palermo, Italy.
Niceta
Marcello
M
Antona
Vincenzo
V
Di Fiore
Antonella
A
Cariola
Filomena
F
Gentile
Mattia
M
Corsello
Giovanni
G
D000293:Adolescent; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D015826:Langer-Giedion Syndrome / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D012097:Repressor Proteins; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*
D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors