Recognition of Kabuki Syndrome
Portuguese Journal of Pediatrics, 2023 Rita Justo Pereira +3 more
doaj +1 more source
A Case of Nonimmune Hydrops Fetalis With a Duct-Dependent Systemic Circulation and a Novel Mutation of Kabuki Syndrome. [PDF]
Case Rep GenetPrasad R +4 more
europepmc +1 more source
A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1. [PDF]
Int J Mol SciVasilyeva T +16 more
europepmc +1 more source
Clinical Presentation and Molecular Characteristics of Kabuki Syndrome With Congenital Hyperinsulinism: A Retrospective Study. [PDF]
CureusGaudillière M +5 more
europepmc +1 more source
Neonatal Kabuki syndrome caused by KMT2D mutation: A case report. [PDF]
Medicine (Baltimore), 2023 Li Z, Ning Z.
europepmc +1 more source
HNF1B-related diabetes mellitus in a Korean patient with Kabuki syndrome: a case report and literature review. [PDF]
Ann Pediatr Endocrinol MetabLee S, Kwak N, Moon JE.
europepmc +1 more source
Increased risk for severe peripheral arterial disease in Kabuki syndrome. [PDF]
J Vasc Surg Cases Innov TechD'Andrea MM, Leon LR.
europepmc +1 more source
Proximal Junctional Kyphosis Following Spinal Thoracic Deformity Correction in a Patient with Kabuki Syndrome: A Case Report. [PDF]
J Orthop Case RepNóbrega J +5 more
europepmc +1 more source
Long-term kidney outcomes in patients with Kabuki syndrome. [PDF]
Pediatr NephrolHan S +6 more
europepmc +1 more source
Immunoglobulin A Nephropathy in a Kidney Transplant Recipient with Kabuki Syndrome. [PDF]
Intern MedShinzato T +11 more
europepmc +1 more source