Literature DB >> 11837609

The ICF syndrome: new case and update.

T J De Ravel1, E Deckers, P L Alliet, P Petit, J P Fryns.   

Abstract

The ICF syndrome: New case and update: We report the clinical progress in a 5-year-old boy with the <<Immunodeficiency-Centromere Instability-Facial anomalies>> (ICF) syndrome. Early diagnosis and intervention has led to a good outcome. DNMT3B mutation analysis was negative, supporting genetic heterogeneity in this condition.

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Year:  2001        PMID： 11837609

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


  3 in total

1.  Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.

Authors:  Delphine Sterlin; Guillaume Velasco; Despina Moshous; Fabien Touzot; Nizar Mahlaoui; Alain Fischer; Felipe Suarez; Claire Francastel; Capucine Picard
Journal:  J Clin Immunol       Date:  2016-02-06       Impact factor: 8.317

2.  Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst.

Authors:  Manuela Cerbone; Jun Wang; Silvère M Van der Maarel; Alessandra D'Amico; Antonio D'Agostino; Alfonso Romano; Nicola Brunetti-Pierri
Journal:  Am J Med Genet A       Date:  2012-07-11       Impact factor: 2.802

Review 3.  Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF).

Authors:  Melanie Ehrlich; Kelly Jackson; Corry Weemaes
Journal:  Orphanet J Rare Dis       Date:  2006-03-01       Impact factor: 4.123
  3 in total

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