Literature DB >> 29523622

Retinopathy and bone marrow failure revealing Coats plus syndrome.

Teresa Painho1, Carla Conceição2, Paula Kjöllerström3, Sara Batalha3.   

Abstract

Entities:  

Keywords:  malignant and benign haematology; neuroimaging

Mesh：

Year:  2018        PMID： 29523622      PMCID： PMC5848012          DOI： 10.1136/bcr-2018-224477

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


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  3 in total

1.  Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Authors:  Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel-Salem; Riyana Babul-Hirji; Peter Baxter; Andrea Berger; Luisa Bonafé; Janice E Brunstom-Hernandez; Johannes A Buckard; David Chitayat; Wui K Chong; Duccio M Cordelli; Patrick Ferreira; Joel Fluss; Ewan H Forrest; Emilio Franzoni; Caterina Garone; Simon R Hammans; Gunnar Houge; Imelda Hughes; Sebastien Jacquemont; Pierre-Yves Jeannet; Rosalind J Jefferson; Ram Kumar; Georg Kutschke; Staffan Lundberg; Charles M Lourenço; Ramesh Mehta; Sakkubai Naidu; Ken K Nischal; Luís Nunes; Katrin Ounap; Michel Philippart; Prab Prabhakar; Sarah R Risen; Raphael Schiffmann; Calvin Soh; John B P Stephenson; Helen Stewart; Jon Stone; John L Tolmie; Marjo S van der Knaap; Jose P Vieira; Catheline N Vilain; Emma L Wakeling; Vanessa Wermenbol; Andrea Whitney; Simon C Lovell; Stefan Meyer; John H Livingston; Gabriela M Baerlocher; Graeme C M Black; Gillian I Rice; Yanick J Crow
Journal:  Nat Genet       Date:  2012-01-22       Impact factor: 38.330

Review 2.  The inherited bone marrow failure syndromes.

Authors:  S Deborah Chirnomas; Gary M Kupfer
Journal:  Pediatr Clin North Am       Date:  2013-12       Impact factor: 3.278

Review 3.  Genomic characterization of the inherited bone marrow failure syndromes.

Authors:  Payal P Khincha; Sharon A Savage
Journal:  Semin Hematol       Date:  2013-10       Impact factor: 3.851
  3 in total
  1 in total

Review 1.  Revesz syndrome revisited.

Authors:  Michael Karremann; Eva Neumaier-Probst; Frank Schlichtenbrede; Fabian Beier; Tim H Brümmendorf; Friedrich W Cremer; Peter Bader; Matthias Dürken
Journal:  Orphanet J Rare Dis       Date:  2020-10-23       Impact factor: 4.123
  1 in total

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