Kabuki Syndrome Latest Advances

Prenatal ultrasound and genetic characteristics of fetuses with Kabuki syndrome: A report of six cases and literature review

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: October 10, 2025

Human Neuron and Mouse Models Reveal Synaptic Imbalance in Kabuki Syndrome.

Journal: bioRxiv : the preprint server for biology

Published: September 18, 2025

A rare case of parachute mitral valve and dual drainage of the left upper pulmonary vein in a patient with Kabuki syndrome.

Journal: Cardiology in the young

Published: August 26, 2025

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

Journal: European journal of medical genetics

Published: August 02, 2025

Towards Characterizing the Developmental and Behavioral Profiles of ODLURO Syndrome: Shared Features With Wiedemann-Steiner Syndrome and Kabuki Syndrome.

Journal: Clinical genetics

Published: July 11, 2025

Correction to "Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital".

Journal: American journal of medical genetics. Part A

Published: July 10, 2025

Letter to the Editor: Long-term kidney outcomes in patients with Kabuki syndrome.

Journal: Pediatric nephrology (Berlin, Germany)

Published: June 30, 2025

Increased risk for severe peripheral arterial disease in Kabuki syndrome.

Journal: Journal of vascular surgery cases and innovative techniques

Published: June 20, 2025

Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.

Journal: Ophthalmic genetics

Published: May 29, 2025

Juvenile idiopathic arthritis associated with Kabuki syndrome: A case report.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: April 30, 2025

Behavioral impairments in a mouse model of Kabuki syndrome associated with dopaminergic and neuroinflammatory modulations.

Journal: Acta neuropsychiatrica

Published: April 14, 2025

Kabuki syndrome caused by pathogenic variants in the KMT2D gene: report of two cases

Journal: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery

Published: April 03, 2025

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Prenatal ultrasound and genetic characteristics of fetuses with Kabuki syndrome: A report of six cases and literature review

Prenatal ultrasound and genetic characteristics of fetuses with Kabuki syndrome: A report of six cases and literature review

Human Neuron and Mouse Models Reveal Synaptic Imbalance in Kabuki Syndrome.

Human Neuron and Mouse Models Reveal Synaptic Imbalance in Kabuki Syndrome.

A rare case of parachute mitral valve and dual drainage of the left upper pulmonary vein in a patient with Kabuki syndrome.

A rare case of parachute mitral valve and dual drainage of the left upper pulmonary vein in a patient with Kabuki syndrome.

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

Clinical and molecular findings of KMT2D-related Kabuki syndrome: A series of 13 patients with 3 novel variants.

Towards Characterizing the Developmental and Behavioral Profiles of ODLURO Syndrome: Shared Features With Wiedemann-Steiner Syndrome and Kabuki Syndrome.

Towards Characterizing the Developmental and Behavioral Profiles of ODLURO Syndrome: Shared Features With Wiedemann-Steiner Syndrome and Kabuki Syndrome.

Correction to "Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital".

Correction to "Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital".

Letter to the Editor: Long-term kidney outcomes in patients with Kabuki syndrome.

Letter to the Editor: Long-term kidney outcomes in patients with Kabuki syndrome.

Increased risk for severe peripheral arterial disease in Kabuki syndrome.

Increased risk for severe peripheral arterial disease in Kabuki syndrome.

Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.

Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.

Juvenile idiopathic arthritis associated with Kabuki syndrome: A case report.

Juvenile idiopathic arthritis associated with Kabuki syndrome: A case report.

Behavioral impairments in a mouse model of Kabuki syndrome associated with dopaminergic and neuroinflammatory modulations.

Behavioral impairments in a mouse model of Kabuki syndrome associated with dopaminergic and neuroinflammatory modulations.

Kabuki syndrome caused by pathogenic variants in the KMT2D gene: report of two cases

Kabuki syndrome caused by pathogenic variants in the KMT2D gene: report of two cases