Rothmund-Thomson Syndrome: in Search of a New Gene
Project location: ITALY
Project start date: December 2007 - Project end date: December 2008
Project number: 2007-14
Beneficiary: Università degli Studi di Milano
Please click on the links below to download the pdf files.
- Poikiloderma with Neutropenia: delineation of novel mutations and geographic clusters
- Larizza et al.: Rothmund-Thomson syndrome. Orphanet Journal of Rare Diseases 2010 5:2.
- Concolino D, Roversi G, Muzzi GL, Sestito S,Colombo EA, Volpi L, Larizza L, Strisciuglio P. 2010. Clericuzio-type Poikiloderma with neutropenia syndrome in three sibs with
mutations in the C16orf57 gene: Delineation of the phenotype. Am J Med Genet Part A 152A:2588-2594
- Volpi et al., Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene, The American Journal of Human Genetics (2010), doi:10.1016/j.ajhg.2009.11.014
- AJHG, Volume 86, Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene
- The American Journal of Human Genetics 86, 1-2, January 8, 2010
- Rothmund-Thomson syndrome, Orphanet Journal of Rare Diseases 2010, 5:2 doi:10.1186/1750-1172-5-2