A novel mutation in exon 7 in a family with mild tricho-rhino-phalangeal syndrome type I [3]

Clinical Genetics

Volumn 63, Issue 2, 2003, Pages 166-167

  Gentile, Mattia ^a   Fiorente, P ^b   Buonadonna, A L ^b   Macina, F ^b   Cariola, F ^b  

^a NATIONAL INSTITUTE FOR DIGESTIVE DISEASES   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; ZINC FINGER PROTEIN;

ADULT; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; CODON; CRANIOFACIAL MALFORMATION; DIAGNOSTIC TEST; EXON; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; INFANT; LETTER; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TRICHORHINOPHALANGEAL SYNDROME TYPE I;

ADULT; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DNA-BINDING PROTEINS; EPIPHYSES; FEMALE; FRAMESHIFT MUTATION; HUMANS; NEOPLASM PROTEINS; NUCLEAR PROTEINS; SEQUENCE ANALYSIS, DNA; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0042632789     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00024.x     Document Type: Letter

References (6)

1. Giedion A et al. Autosomal dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. Helv Pediatr Acta 1973: 28: 259.
2. Momeni P et al. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet 2000: 24: 74.
3. Hatamura I et al. A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I. Clin Genet 2001: 59: 367.
4. Lüdecke HJ et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet 2001: 68: 91.
5. Hilton MJ et al. Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalageal syndromes. J Hum Genet 2002: 47: 106.
6. Kobayashi H et al. Missense mutation of TRPS1 in a family of Tricho-Rhino-Phalangeal syndrome type III. Am J Med Genet 2002: 107: 29.