Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome-Reference-Cited by-同舟云学术

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Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome

Published:2023-03 Issue: Volume:29 Page:101798
ISSN:2451-9936
Container-title:American Journal of Ophthalmology Case Reports
language:en
Short-container-title:American Journal of Ophthalmology Case Reports

Author:

Mansoor Mahsaw,Coussa Razek Georges,Strampe Margaret R.,Larson Scott A.,Russell Jonathan F.

Publisher

Elsevier BV

Subject

Ophthalmology

Reference22 articles.

1. Kabuki syndrome: international consensus diagnostic criteria;Adam;J Med Genet,2019

2. Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein;Allen;Eye,2006

3. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2);Banka;Clin Genet,2015

4. Mutation update for kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked kabuki syndrome subtype 2;Bögershausen;Hum Mutat,2016

5. Unmasking kabuki syndrome;Bögershausen;Clin Genet,2013

Cited by 2 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. Serous-Exudative Detachment and Progressive Macular Degeneration in a Patient With Kabuki and Marfan Syndrome;Ophthalmic Surgery, Lasers and Imaging Retina;2024-09

2. Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review;Genes;2024-05-23

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