Characteristics and surgical outcomes of cleft palate in kabuki syndrome: a case series of 11 patients by Jong-Ho Kim, Jiwon Kang, Joon Seok Oh, Taeseon Ahn, Baek-kyu Kim, Rong-Min Baek

Subjects: “…Kabuki syndrome…”
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Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome). by Anandan, M, Porter, N, Nemeth, A, Blair, E, Downes, S

“… PURPOSE: To report a case of Kabuki make-up syndrome (KMS) or Niikawa-Kuroki syndrome with Coats-type retinal telangiectasia, which has not been previously reported. …”

Pulmonary hypertension— a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review by Xiao-xian Deng, Bo-wen Jin, Shan-shan Li, Hong-mei Zhou, Qun-shan Shen, Yun-yan Li

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Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndromeResearch in context by Erica Tsang, Velda X. Han, Chloe Flutter, Sarah Alshammery, Brooke A. Keating, Tracey Williams, Brian S. Gloss, Mark E. Graham, Nader Aryamanesh, Ignatius Pang, Melanie Wong, David Winlaw, Michael Cardamone, Shekeeb Mohammad, Wendy Gold, Shrujna Patel, Russell C. Dale

“…Summary: Background: Kabuki syndrome (KS) is a genetic disorder caused by DNA mutations in KMT2D, a lysine methyltransferase that methylates histones and other proteins, and therefore modifies chromatin structure and subsequent gene expression. …”
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Multidisciplinary clinical and translational approach for optimizing management for complex and rare conditions using Kabuki syndrome as example by Leen Khalife, Rachel Gottlieb, Tara Daly, Xiaoting Ma, Asma Rashid, Bridget Funk, Emanuela Gussoni, Christina Hung, Olaf Bodamer

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Genetic and Phenotypic Spectrum of <i>KMT2D</i> Variants in Taiwanese Case Series of Kabuki Syndrome by Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

Subjects: “…Kabuki syndrome…”
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P837: DNA methylation profiling in Kabuki syndrome: Steps towards improved classification of variants of uncertain significance by Sanaa Choufani, Rosanna Weksberg

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P340: Kabuki syndrome and metachromatic leukodystrophy, dual diagnosis in a female patient: A case report by Margarita Vazquez Almonte, Jennifer Black, Melissa Byler, Robert Lebel, Nienke Dosa

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P205: Deep phenotyping of Kabuki syndrome to create meaningful and specific biomarkers and outcome measures for clinical trials by Allison Kalinousky, Tyler Rapp, Jacqueline Harris, Hans Bjornsson, Jennifer Johnson

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Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study by Yirou Wang, Yufei Xu, Yao Chen, Yabin Hu, Qun Li, Shijian Liu, Jian Wang, Xiumin Wang

Subjects: “…Kabuki syndrome type 2…”
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The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance by Erfan Aref-Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David Rodenhiser, Charles Schwartz, Bekim Sadikovic

Subjects: “…kabuki syndrome…”
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A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures by Can Ebru Bekircan-Kurt, Pelin Özlem Şimşek-Kiper, Koray Boduroğlu, Neşe Dericioğlu

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Treatment of immune thrombocytopenia with hetrombopag olamine tablets in a Kabuki syndrome patient with new KMT2D mutations by Peng Peng, Ying Pan, Xueqing Lu, Hui Xu, Ziwei Zhou, Yuanqing He, Huiru Wang, Changcheng Zheng, Li Zhou

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Single-Cell Transcriptome Analysis Defines Expression of Kabuki Syndrome-Associated KMT2D Targets and Interacting Partners by Badam Enkhmandakh, Paul Robson, Pujan Joshi, Anushree Vijaykumar, Dong-Guk Shin, Mina Mina, Dashzeveg Bayarsaihan

“…Objectives. Kabuki syndrome (KS) is a rare genetic disorder characterized by developmental delay, retarded growth, and cardiac, gastrointestinal, neurocognitive, renal, craniofacial, dental, and skeletal defects. …”
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How genetically heterogeneous is Kabuki syndrome: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum by Banka, S, Veeramachaneni, R, Reardon, W, Howard, E, Bunstone, S, Ragge, N, Parker, M, Crow, Y, Kerr, B, Kingston, H, Metcalfe, K, Chandler, K, Magee, A, Stewart, F, McConnell, V, Donnelly, D, Berland, S, Houge, G, Morton, J, Oley, C, Revencu, N, Park, S, Davies, S, Fry, A, Lynch, SA

“…MLL2 mutations are detected in 55 to 80% of patients with Kabuki syndrome (KS). In 20 to 45% patients with KS, the genetic basis remains unknown, suggesting possible genetic heterogeneity. …”

A case of Kabuki syndrome with precocious puberty and short stature due to novel KDM6A splice-site mutation by ZHAO Ya-ling, LI Shu-ying, WANG Xi, NIE Min, WU Xue-yan, MAO Jiang-feng

Subjects: “…kabuki syndrome|kdm6a|central precocious puberty|splicing mutation|dwarfism…”
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Las mujeres guerreras del teatro kabuki y el legado de las artes marciales femeninas de Japón by Deborah Klens-Bigman

“…El personaje de la mujer guerrera ha sido un elemento básico del teatro kabuki japonés casi desde su origen. Las audiencias aceptaban estos personajes, especialmente a las mujeres guerreras de clase samurái, como parte de la descripción de la vida del periodo Edo (1603-1868). …”
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Las mujeres guerreras del teatro kabuki y el legado de las artes marciales femeninas de Japón by Deborah Klens-Bigman

“…El personaje de la mujer guerrera ha sido un elemento básico del teatro kabuki japonés casi desde su origen. Las audiencias aceptaban estos personajes, especialmente a las mujeres guerreras de clase samurái, como parte de la descripción de la vida del periodo Edo (1603-1868). …”
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Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model by Sarah Jessica Goodman, Teresa Romeo Luperchio, Jacob Ellegood, Eric Chater-Diehl, Jason P. Lerch, Hans Tomas Bjornsson, Rosanna Weksberg

“…A potential postnatal treatment of Kabuki syndrome type 1 (KS1), caused by pathogenic variants in KMT2D encoding a histone-lysine methyltransferase, has emerged using a mouse model of KS1 (Kmt2d +/βGeo ). …”
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29: Unraveling a complex genetic puzzle: Co-occurrence of Turner and Kabuki features, developmental delay, and autism spectrum disorder by Meng-Chang Hsiao, Maureen Mulhern, Tristan Sands, Naomi Yachelevich, Jun Liao

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