Treatment of immune thrombocytopenia with hetrombopag olamine tablets in a Kabuki syndrome patient with new KMT2D mutations

Kabuki Syndrome—Clinical Review with Molecular Aspects

(2021) Snir Boniel et al.   Genes

Pharmacological characterization of hetrombopag, a novel orally active human thrombopoietin receptor agonist

(2018) Chengying Xie et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome

(2016) Andrew W. Lindsley et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

(2011) Damien Lederer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Improved regulatory T-cell activity in patients with chronic immune thrombocytopenia treated with thrombopoietic agents

(2010) W. Bao et al.   BLOOD

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS