Coats-Type Retinal Telangiectasia in Case of Kabuki Make-Up Syndrome (Niikawa-Kuroki Syndrome)
Author:
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.1080/13816810500374433
Reference15 articles.
1. A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
2. Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency
3. Kabuki make-up syndrome: A review
4. Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association
5. Dominant inheritance of Kabuki make-up syndrome
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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. Salzmann nodular degeneration features in a case of Kabuki make-up syndrome;BMJ Case Reports;2019-05
4. An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity;American Journal of Medical Genetics Part A;2016-08-17
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