Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference36 articles.
1. Kabuki syndrome: a review;Adam;Clin. Genet.,2005
2. Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome);Anandan;Ophthalmic Genet.,2005
3. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection;Badalato;Am. J. Med. Genet.,2017
4. Unmasking kabuki syndrome;Bögershausen;Clin. Genet.,2013
5. Mutation update for kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked kabuki syndrome subtype 2;Bögershausen;Hum. Mutat.,2016
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3. A Case of Kabuki Syndrome Caused by a Novel Mutation in KMT2D and a Literature Review of Ocular Abnormalities;2024-04-25
4. Newly recognized orbital malformations in kabuki syndrome: A case report;European Journal of Ophthalmology;2024-04-24
5. Insights into the genotype–phenotype relationship of ocular manifestations in Kabuki syndrome;American Journal of Medical Genetics Part A;2023-03-09
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