Literature DB >> 10606946

Haematological disease in siblings with Rothmund-Thomson syndrome.

W M Porter1, C M Hardman, S H Abdalla, A V Powles.   

Abstract

We report two siblings with Rothmund-Thomson syndrome (RTS); the older sister died of acute myeloblastic leukaemia and the younger sister has a slowly progressive leucopenia. Her prognosis is guarded in view of the increased incidence of neoplasms in this condition. More than 200 cases of RTS have now been reported worldwide.1 This is the first report of siblings with haematological disease and RTS.

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Year:  1999        PMID： 10606946     DOI： 10.1046/j.1365-2230.1999.00530.x

Source DB:  PubMed          Journal:  Clin Exp Dermatol        ISSN： 0307-6938            Impact factor:   3.470


  10 in total

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Journal:  Am J Med Genet A       Date:  2010-12-22       Impact factor: 2.802

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Review 3.  Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.

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Review 4.  Rothmund-Thomson syndrome.

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5.  Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

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6.  Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.

Authors:  Elisa A Colombo; Nursel H Elcioglu; Claudio Graziano; Pamela Farinelli; Elisabetta Di Fede; Iria Neri; Elena Facchini; Mariangela Greco; Cristina Gervasini; Lidia Larizza
Journal:  J Clin Immunol       Date:  2018-05-16       Impact factor: 8.317

7.  Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.

Authors:  Elisa A Colombo; J Fernando Bazan; Gloria Negri; Cristina Gervasini; Nursel H Elcioglu; Deniz Yucelten; Ilknur Altunay; Umram Cetincelik; Anna Teti; Andrea Del Fattore; Matteo Luciani; Spencer K Sullivan; Albert C Yan; Ludovica Volpi; Lidia Larizza
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Authors:  Malina Yamashita Peterson; Brooke Hanson; Ingrid Polcari
Journal:  Pediatr Dermatol       Date:  2022-05-06       Impact factor: 1.997

9.  Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs.

Authors:  Vincenzo Piccolo; Teresa Russo; Daniela Di Pinto; Elvira Pota; Martina Di Martino; Giulio Piluso; Andrea Ronchi; Giuseppe Argenziano; Eugenia Veronica Di Brizzi; Claudia Santoro
Journal:  Front Med (Lausanne)       Date:  2021-06-10

10.  Atypical meningioma as a solitary malignancy in a patient with Rothmund-Thompson syndrome.

Authors:  Niv Pencovich; Nevo Margalit; Shlomi Constantini
Journal:  Surg Neurol Int       Date:  2012-12-14
  10 in total

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