6533b874fe1ef96bd12d6392

RESEARCH PRODUCT

Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.

Mattia GentileMaria PiccioneAntonella Di FioreGiovanni CorselloVincenzo AntonaMarcello NicetaFilomena Cariola

subject

GeneticsAdolescentBase SequenceLanger-Giedion SyndromeDNA Mutational AnalysisMolecular Sequence DataInfantBiologymedicine.diseaseDNA-Binding ProteinsRepressor ProteinsSettore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica MedicaMutationGeneticsmedicineTricho–rhino–phalangeal syndromeHumansIdentification (biology)FemaleTRICHO-RHINO-PHALNAGEAL SYNDORME TRPS GENEChildGeneGenetics (clinical)Transcription Factors
yearjournalcountryeditionlanguage
2009-07-16American journal of medical genetics. Part A
10.1002/ajmg.a.32952https://pubmed.ncbi.nlm.nih.gov/19610100