Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome-Reference-Cited by-同舟云学术

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Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome

Published:2021-01-03 Issue:2 Volume:42 Page:186-188
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Prat Daphna¹²,Katowitz William R.¹,Strong Alanna³,Katowitz James A.¹

Affiliation:

1. Division of Ophthalmology, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

2. Goldschleger Eye institute, Sheba Medical Center, Tel Hashomer, Israel

3. Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia Pennsylvania, USA

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1868012

Reference7 articles.

1. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

2. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

3. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

4. Cutaneous features in 17q21.31 deletion 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. Ocular manifestations in Koolen–de Vries syndrome: an international study;Canadian Journal of Ophthalmology;2023-12

2. Uncommon fundus presentation of Koolen-De Vries Syndrome in a young boy;Ophthalmic Genetics;2023-08-02

3. The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review;American Journal of Medical Genetics Part A;2023-04-13

4. “Blepharophimosis‐plus” syndromes: Frequency of systemic genetic disorders that also include blepharophimosis;Clinical & Experimental Ophthalmology;2021-04-29

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