Kabuki Syndrome Latest Advances
Find the Latest Research About Kabuki Syndrome
Last Updated: 09/19/2026
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Found 492 publications
Fetal Kabuki syndrome caused by a novel gene variation in KMT2D with primary carnitine deficiency: a case report.
Journal: Journal of medical case reports
Published: April 20, 2026
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
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
Kabuki Syndrome: Dental and Craniofacial Findings.
Journal: Contemporary clinical dentistry
Published: December 01, 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
Last Updated: 09/19/2026