From Genotype to Phenotype—A Review of Kabuki Syndrome

Vestibular Dysfunction and Gross Motor Milestone Acquisition in Children With Hearing Loss: A Systematic Review

(2021) Anisha Singh et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

(2021) Víctor Faundes et al.   GENETICS IN MEDICINE

Cancer-epigenetic function of the histone methyltransferase KMT2D and therapeutic opportunities for the treatment of KMT2D-deficient tumors

(2021) Shilpa S. Dhar et al.   Oncotarget

A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada

(2021) Christina Theodore-Oklota et al.   ADVANCES IN THERAPY

Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation

(2021) Alec Wright et al.   FASEB JOURNAL

Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies

(2021) Rishika P. Sakaria et al.   Frontiers in Genetics

Phenotypic expansion of KMT2D- related disorder: Beyond Kabuki syndrome

(2020) Dustin Baldridge et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

(2020) Sara Cuvertino et al.   GENETICS IN MEDICINE

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

(2020) Hiroaki Murakami et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong

(2020) Po L. So et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review

(2020) Chong Kun Cheon et al.   OPHTHALMIC GENETICS

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

(2019) Raphael Carapito et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum

(2019) Marcello Scala et al.   PEDIATRIC BLOOD & CANCER

Novel heterozygous variants in KMT2D associated with holoprosencephaly

(2019) Cedrik Tekendo‐Ngongang et al.   CLINICAL GENETICS

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

(2019) Henri Margot et al.   GENETICS IN MEDICINE

Prenatal and perinatal history in Kabuki Syndrome

(2019) Chen E. Rosenberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Growth charts in Kabuki syndrome 1

(2019) Valentin Ruault et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Holoprosencephaly in Kabuki syndrome

(2019) Tara Daly et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review

(2018) Chengqi Xin et al.   BMC Medical Genetics

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

(2018) Kai Lee Yap et al.   GENETICS IN MEDICINE

Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency

(2018) Christopher E. Gibson et al.   Hormone Research in Paediatrics

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs

(2018) Thantrira Porntaveetus et al.   International Journal of Biological Sciences

2018 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference

(2018)   JOURNAL OF CLINICAL IMMUNOLOGY

Cancer Management in Kabuki Syndrome

(2018) Hideto Teranishi et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Atypical Autoimmune Hematological Disorders in a Patient With Kabuki Syndrome

(2018) Ara C. Almécija et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Neurobehavioral features in individuals with Kabuki syndrome

(2018) Cristina Caciolo et al.   Molecular Genetics & Genomic Medicine

Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment

(2018) Dina A. Schott et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation

(2018) Emmanuel de Billy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Abstracts from the 50th European Society of Human Genetics Conference: Posters

(2018)   EUROPEAN JOURNAL OF HUMAN GENETICS

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

(2018) Víctor Faundes et al.   JOURNAL OF HUMAN GENETICS

Kabuki syndrome: international consensus diagnostic criteria

(2018) Margaret P Adam et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype

(2018) Charu Kaiwar et al.   CLINICAL IMMUNOLOGY

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

(2017) Erfan Aref-Eshghi et al.   Epigenetics

Histone H3 lysine 4 methyltransferase KMT2D

(2017) Eugene Froimchuk et al.   GENE

Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results

(2017) Dina A. Schott et al.   Hormone Research in Paediatrics

Refractory ITP in a patient with Kabuki syndrome: response to low-dose rituximab

(2017) Brian Kerr et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

(2017) Francesca Lepri et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Typical facial gestalt in X-linked Kabuki syndrome

(2016) Henri Margot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Growth pattern in Kabuki syndrome with aKMT2Dmutation

(2016) Dina A. Schott et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited

(2016) Paraskevi Karagianni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring

(2016) J. Paděrová et al.   CLINICAL GENETICS

Ade novoframeshift inHNRNPKcausing a Kabuki-like syndrome with nodular heterotopia

(2016) L. Lange et al.   CLINICAL GENETICS

Growth Hormone Stimulation Tests in Children with Kabuki Syndrome

(2016) Dina A. Schott et al.   Hormone Research in Paediatrics

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

(2016) Nina Bögershausen et al.   HUMAN MUTATION

A Patient with Kabuki (Niikawa-Kuroki) Syndrome, Common Variable Immunodeficiency and Immune-Mediated Neutropenia Found to Have a Novel Mutation in the KTM2D Gene.

(2016) Neha Dunn et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

A novel KMT2D mutation resulting in Kabuki syndrome: A case report

(2016) Jun Lu et al.   Molecular Medicine Reports

A Child with Kabuki Syndrome and Autism Spectrum Disorder

(2016) Mehmet Sertcelik et al.   Noropsikiyatri Arsivi-Archives of Neuropsychiatry

Pilomatricoma Associated with Kabuki Syndrome

(2016) Fanny-Emmanuelle Bernier et al.   PEDIATRIC DERMATOLOGY

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis

(2016) Fatih Gürbüz et al.   Journal of Clinical Research in Pediatric Endocrinology

Speech and language in a genotyped cohort of individuals with Kabuki syndrome

(2015) Angela T. Morgan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Spinal ependymoma in a patient with Kabuki syndrome: a case report

(2015) Davide Roma et al.   BMC Medical Genetics

Epigenetic control of the immune system: a lesson from Kabuki syndrome

(2015) Stefano Stagi et al.   IMMUNOLOGIC RESEARCH

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation inKDM6A

(2014) Damien Lederer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Kabuki syndrome: clinical and molecular diagnosis in the first year of life

(2014) Maria Lisa Dentici et al.   ARCHIVES OF DISEASE IN CHILDHOOD

NovelKDM6A(UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

(2014) S. Banka et al.   CLINICAL GENETICS

Acute myocardial infarction in Kabuki syndrome: Chance occurrence or a novel risk factor for premature atherosclerosis?

(2014) Robin A.P. Weir et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

MLL2 and KDM6A mutations in patients with Kabuki syndrome

(2013) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital heart defects in Kabuki syndrome

(2013) Shi-Min Yuan   Cardiology Journal

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

(2013) Amelia M. Lindgren et al.   HUMAN GENETICS

Novel MLL2 Mutation in Kabuki Syndrome With Hypogammaglobulinemia and Severe Chronic Thrombopenia

(2013) Florian Brackmann et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome

(2013) Jean-Benoît Courcet et al.   JOURNAL OF PEDIATRICS

Analysis ofMLL2gene in the first Brazilian family with Kabuki syndrome

(2012) Nancy Mizue Kokitsu-Nakata et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MLL2mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome

(2012) S Banka et al.   CLINICAL GENETICS

Unmasking Kabuki syndrome

(2012) N Bögershausen et al.   CLINICAL GENETICS

Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome

(2012) Naoto Nishizaki et al.   CLINICAL NEPHROLOGY

KDM6A Point Mutations Cause Kabuki Syndrome

(2012) Noriko Miyake et al.   HUMAN MUTATION

Multiple Pilomatricomas in Kabuki Syndrome

(2012) Atsumori Hamahata et al.   PEDIATRIC DERMATOLOGY

Hypothalamic pituitary complications in Kabuki syndrome

(2012) Naoko Ito et al.   Pituitary

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

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

(2011) Mark C. Hannibal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cancer predisposition in children with Kabuki syndrome

(2011) Michela Casanova et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

(2011) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A mutation screen in patients with Kabuki syndrome

(2011) Yun Li et al.   HUMAN GENETICS

Long-term outcome of epilepsy in Kabuki syndrome

(2011) Alberto Verrotti et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Kabuki syndrome and cancer in two patients

(2010) Manuela Tumino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Seizures and EEG pattern in Kabuki syndrome

(2010) Monica Lodi et al.   BRAIN & DEVELOPMENT

A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia

(2010) Seiichiro Yoshioka et al.   BRAIN & DEVELOPMENT

Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency

(2010) Krystyna H Chrzanowska et al.   CLINICAL GENETICS

Kabuki make-up (Niikawa-Kur oki) syndrome: cognitive abilities and autistic features

(2010) Helena H. Ho et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

(2010) Aimée D. C. Paulussen et al.   HUMAN MUTATION

Kabuki Syndrome and Crohn Disease in a Child with Familial Hypocalciuric Hypercalcemia

(2010) Josephine Ho et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome

(2010) M. Cristina Digilio et al.   PEDIATRIC CARDIOLOGY

Tremor and Deep Brain Nuclei Hyperintensities in Kabuki Syndrome

(2010) Christopher Grunseich et al.   PEDIATRIC NEUROLOGY

Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome

(2009) Raveen Shahdadpuri et al.   CLINICAL DYSMORPHOLOGY

Evaluation for language and speech development in Kabuki make-up syndrome: A case report

(2009) Nuray Bayar Muluk et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Idiopathic polyhydramnios and postnatal findings

(2008) Desirée M. J. Dorleijn et al.   Journal of Maternal-Fetal & Neonatal Medicine