Ophthalmic Findings Associated with NEDD4L-related Disorder-Reference-Cited by-同舟云学术

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Ophthalmic Findings Associated with NEDD4L-related Disorder

Published:2022-06 Issue:3 Volume:26 Page:164-167
ISSN:1091-8531
Container-title:Journal of American Association for Pediatric Ophthalmology and Strabismus
language:en
Short-container-title:Journal of American Association for Pediatric Ophthalmology and Strabismus

Author:

Santilli Christopher^ORCID,Aggarwal Anjali,Dailey Christina,McClelland Collin

Publisher

Elsevier BV

Subject

Ophthalmology,Pediatrics, Perinatology and Child Health

Reference9 articles.

1. Nodular heterotopia is built upon layers;Ferland;Neurology,2009

2. Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia;Broix;Nat Genet,2016

3. Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures;Elbracht;Mol Genet Genomic Med,2018

4. A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate;Kato;J Hum Genet,2017

5. Clinical and genetic analysis of a patient with periventricular nodular heterotopia 7 caused by NEDD4L gene variant;Ma;Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2020

Cited by 1 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. NEDD4L in human tumors: regulatory mechanisms and dual effects on anti-tumor and pro-tumor;Frontiers in Pharmacology;2023-11-09

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