Literature DB >> 10524463

Aplastic anemia in a patient with Rothmund-Thomson syndrome.

K A Knoell1, N K Sidhu-Malik, R K Malik.   

Abstract

This report is the first to describe constitutional aplastic anemia in a patient with Rothmund-Thomson syndrome (also called poikiloderma congenitale), a disease characterized by multiple cutaneous and extracutaneous findings. The findings suggest that although Rothmund-Thomson syndrome is a rare disease, vigilance for the development of associated hematologic abnormalities is warranted.

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Year:  1999        PMID： 10524463     DOI： 10.1097/00043426-199909000-00021

Source DB:  PubMed          Journal:  J Pediatr Hematol Oncol        ISSN： 1077-4114            Impact factor:   1.289


  5 in total

1.  Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.

Authors:  Carol Clericuzio; Karine Harutyunyan; Weidong Jin; Robert P Erickson; Alan D Irvine; W H Irwin McLean; Yaran Wen; Rochelle Bagatell; Thomas A Griffin; Tor A Shwayder; Sharon E Plon; Lisa L Wang
Journal:  Am J Med Genet A       Date:  2010-12-22       Impact factor: 2.802

Review 2.  Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.

Authors:  Michael F Walsh; Vivian Y Chang; Wendy K Kohlmann; Hamish S Scott; Christopher Cunniff; Franck Bourdeaut; Jan J Molenaar; Christopher C Porter; John T Sandlund; Sharon E Plon; Lisa L Wang; Sharon A Savage
Journal:  Clin Cancer Res       Date:  2017-06-01       Impact factor: 12.531

Review 3.  Rothmund-Thomson syndrome.

Authors:  Lidia Larizza; Gaia Roversi; Ludovica Volpi
Journal:  Orphanet J Rare Dis       Date:  2010-01-29       Impact factor: 4.123

4.  Ataxia and pancytopenia caused by a mutation in TINF2.

Authors:  Elena Tsangaris; Sally-Lin Adams; Grace Yoon; David Chitayat; Peter Lansdorp; Inderjeet Dokal; Yigal Dror
Journal:  Hum Genet       Date:  2008-11-01       Impact factor: 4.132

5.  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
Journal:  Orphanet J Rare Dis       Date:  2012-01-23       Impact factor: 4.123
  5 in total

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