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

Author:

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference6 articles.

1. Autosomal dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases;Giedion;Helv Pediatr Acta,1973

2. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I;Momeni;Nat Genet,2000

3. A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I;Hatamura;Clin Genet,2001

4. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III;Lüdecke;Am J Hum Genet,2001

5. Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalageal syndromes;Hilton;J Hum Genet,2002

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