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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