Macular Dystrophy in Kabuki Syndrome: A New Clinical Feature?
Author:
Publisher
SLACK, Inc.
Subject
Ophthalmology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference7 articles.
1. Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease.
2. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
3. A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
4. Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency
5. Coats-Type Retinal Telangiectasia in Case of Kabuki Make-Up Syndrome (Niikawa-Kuroki Syndrome)
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology;Graefe's Archive for Clinical and Experimental Ophthalmology;2024-01-11
2. Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature;European Journal of Medical Genetics;2021-06
3. Kabuki Syndrome—Clinical Review with Molecular Aspects;Genes;2021-03-25
4. The combination of whole‐exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies;Acta Ophthalmologica;2019-03-29
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