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Article

Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia.

Journal of pediatric hematology/oncology - 1 Oct 2013

Brackmann Florian, Krumbholz Manuela, Langer Thorsten, Rascher Wolfgang, Holter Wolfgang, Metzler Markus

Abstract excerpt

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 id...

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Identifiers

PMID: 23042018
DOI: 10.1097/MPH.0b013e3182707fa8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23042018-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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