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Results 1 - 5 of 5 for "Rothmund-Thomson" syndrome type 2
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  1. Rothmund-Thomson syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ROTHMUND-THOMSON SYNDROME, TYPE 2; RTS2 PubMed Hicks MJ, Roth JR, Kozinetz CA, Wang LL. Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome. J Clin Oncol. 2007 Feb 1;25( ...
    https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome - Genetics
  2. RECQL4 gene 
    ... and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. 2003 May 7;95( ... damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome. Biochem Biophys Res Commun. 2006 Jun 23;345( ...
    https://medlineplus.gov/genetics/gene/recql4 - Genetics
  3. RAPADILINO syndrome 
    ... of other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome. These syndromes are also characterized by radial ray ... similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part ...
    https://medlineplus.gov/genetics/condition/rapadilino-syndrome - Genetics
  4. Poikiloderma with neutropenia 
    ... patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet. 2010 Nov 15;19(22): ...
    https://medlineplus.gov/.../condition/poikiloderma-with-neutropenia - Genetics
  5. Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis 
    ... and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome? Eur J Dermatol. 2008 Nov-Dec;18(6): ...
    https://medlineplus.gov/...tractures-myopathy-and-pulmonary-fibrosis - Genetics