Literature DB >> 22798484

Too short stature, too many stigmata.

Lydia Kossiva1, George Vartzelis, Marieta Harisi, Ioanna Logotheti, Anastasia Garoufi.   

Abstract

Dyskeratosis congenita (DC) is a rare disease characterised by bone marrow failure and skin manifestations. Patients with DC may exhibit short stature that is not usually related to growth hormone (GH) deficiency. Replacement treatment with GH should be done cautiously as it can predispose to haematological malignancy. We present a 10-year-old boy with DC and GH deficiency.

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Year:  2010        PMID： 22798484      PMCID： PMC3028073          DOI： 10.1136/bcr.06.2010.3087

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


  5 in total

1.  Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.

Authors:  Mary Armanios; Jiunn-Liang Chen; Yen-Pei Christy Chang; Robert A Brodsky; Anita Hawkins; Constance A Griffin; James R Eshleman; Alan R Cohen; Aravinda Chakravarti; Ada Hamosh; Carol W Greider
Journal:  Proc Natl Acad Sci U S A       Date:  2005-10-24       Impact factor: 11.205

2.  The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.

Authors:  T Vulliamy; A Marrone; F Goldman; A Dearlove; M Bessler; P J Mason; I Dokal
Journal:  Nature       Date:  2001-09-27       Impact factor: 49.962

Review 3.  Diagnosis, genetics, and management of inherited bone marrow failure syndromes.

Authors:  Blanche P Alter
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2007

4.  Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.

Authors:  Michael Kirwan; Richard Beswick; Tom Vulliamy; Amit C Nathwani; Amanda J Walne; Colin Casimir; Inderjeet Dokal
Journal:  Br J Haematol       Date:  2008-11-20       Impact factor: 6.998

5.  TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.

Authors:  Amanda J Walne; Tom Vulliamy; Richard Beswick; Michael Kirwan; Inderjeet Dokal
Journal:  Blood       Date:  2008-07-30       Impact factor: 22.113
  5 in total
  1 in total

Review 1.  Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Authors:  Moisés Ó Fiesco-Roa; Benilde García-de Teresa; Paula Leal-Anaya; Renée van 't Hek; Talia Wegman-Ostrosky; Sara Frías; Alfredo Rodríguez
Journal:  Front Oncol       Date:  2022-08-25       Impact factor: 5.738
  1 in total

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