Kabuki Syndrome Latest Advances
Find the Latest Research About Kabuki Syndrome
Last Updated: 06/30/2026
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Found 488 publications
An unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma.
Journal: European journal of ophthalmology
Published: March 23, 2026
A novel KDM6A c.2429dup mutation causing kabuki syndrome type 2 identified in a fetus with increased nuchal translucency.
Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Published: March 15, 2026
Oral and Maxillofacial Manifestations Associated with Kabuki Syndrome: A Systematic Review.
Journal: Journal of stomatology, oral and maxillofacial surgery
Published: March 14, 2026
A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.
A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.
Journal: International journal of molecular sciences
Published: February 17, 2026
EXPRESS: A case of Kabuki syndrome with congenital pulmonary airway malformation.
Journal: Journal of investigative medicine : the official publication of the American Federation for Clinical Research
Published: February 17, 2026
Congenital Corneal Staphyloma in an Asian Infant With Kabuki Syndrome Confirmed by a KMT2D Mutation.
Congenital Corneal Staphyloma in an Asian Infant With Kabuki Syndrome Confirmed by a KMT2D Mutation.
Journal: The Journal of craniofacial surgery
Published: January 19, 2026
A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.
Journal: American journal of human genetics
Published: December 11, 2025
Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.
Journal: Neurogenetics
Published: October 27, 2025
Proximal Junctional Kyphosis Following Spinal Thoracic Deformity Correction in a Patient with Kabuki Syndrome: A Case Report.
Journal: Journal of orthopaedic case reports
Published: October 18, 2025
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
Last Updated: 06/30/2026