title: Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.
authors.affiliation: Dipartimento Materno Infantile, Università degli Studi di Palermo, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Piccione
authors.forename: Marcello
authors.initials: M
authors.lastname: Niceta
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Antona
authors.forename: Antonella
authors.initials: A
authors.lastname: Di Fiore
authors.forename: Filomena
authors.initials: F
authors.lastname: Cariola
authors.forename: Mattia
authors.initials: M
authors.lastname: Gentile
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
mesh_terms: 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*
chemical_list: D004268:DNA-Binding Proteins; D012097:Repressor Proteins; C108387:TRPS1 protein, human; D014157:Transcription Factors