Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome-Reference-Cited by-同舟云学术

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Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome

Published:2013-09-03 Issue:2 Volume:36 Page:99-104
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Abu-Amero Khaled K.,Kondkar Altaf,Hellani Ali M.,Oystreck Darren T.,Khan Arif O.,Bosley Thomas M.

Publisher

Informa UK Limited

Subject

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

Link

http://www.tandfonline.com/doi/pdf/10.3109/13816810.2013.835431

Reference35 articles.

1. Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family

2. Okihiro syndrome is caused by SALL4 mutations

3. Human CHN1 Mutations Hyperactivate α2-Chimaerin and Cause Duane's Retraction Syndrome

4. Expansion of theCHN1Strabismus Phenotype

5. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

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. Exome sequence analysis of rare frequency variants in Late-Onset Alzheimer Disease;Metabolic Brain Disease;2023-05-10

2. CHN1 gene mutation analysis in patients with Duane retraction syndrome;Journal of American Association for Pediatric Ophthalmology and Strabismus;2017-12

3. A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles;BMC Research Notes;2017-11-06

4. Ocular Motor Nerve Palsies in Children;Pediatric Neuro-Ophthalmology;2016

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