These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia.
    Author: Brackmann F, Krumbholz M, Langer T, Rascher W, Holter W, Metzler M.
    Journal: J Pediatr Hematol Oncol; 2013 Oct; 35(7):e314-6. PubMed ID: 23042018.
    Abstract:
    BACKGROUND: Kabuki syndrome is a rare condition characterized by distinct dysmorphic features and a broad spectrum of organ anomalies. Differentiating it from other syndromes can be difficult, particularly in patients with incomplete phenotypic manifestation. Recently, MLL2 gene mutations were identified as the underlying genetic cause of Kabuki syndrome in the majority of cases. OBSERVATIONS: We report the case of an adolescent with an uncommon combination of manifestations, including hypogammaglobulinemia and severe chronic thrombopenia associated with a novel MLL2 mutation. CONCLUSIONS: This report adds to the growing knowledge on the mutational and phenotypic spectrum of Kabuki syndrome.
    [Abstract] [Full Text] [Related] [New Search]