LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome-Reference-Cited by-同舟云学术

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LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome

Published:2018-11-18 Issue:2 Volume:95 Page:325-328
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Chan Tin K.¹²,Alkaabi Mohammed K.¹,ElBarky Ahmed M.¹³,El-Hattab Ayman W.⁴^ORCID

Affiliation:

1. Ophthalmology Department; Sheikh Khalifa Medical City; Abu Dhabi United Arab Emirates

2. Department of Ophthalmology; Princess Alexandra Eye Pavilion; Edinburgh U.K.

3. Benha Faculty of Medicine; Benha University; Benha Egypt

4. Division of Genetic and Metabolic Disorders; Tawam Hospital; Al Ain United Arab Emirates

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13465/fullpdf

Reference7 articles.

1. Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist;Snead;Eye Lond Engl,2011

2. LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive stickler syndrome;Alzahrani;Hum Genet,2015

3. Lysyl oxidase: an oxidative enzyme and effector of cell function;Lucero;Cell Mol Life Sci,2006

4. A tissue-specific variant of the human lysyl oxidase-like protein 3 (LOXL3) functions as an amine oxidase with substrate specificity;Lee;J Biol Chem,2006

Cited by 20 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. Novel LOXL3 -associated stickler syndrome-like phenotype: a case report;Ophthalmic Genetics;2024-07-03

2. The genetics and disease mechanisms of rhegmatogenous retinal detachment;Progress in Retinal and Eye Research;2023-11

3. Homozygous LOXL2 variant in individuals affected by non‐syndromic occipital encephalocele;Birth Defects Research;2023-06-22

4. Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2;Frontiers in Genetics;2023-06-06

5. The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia;Investigative Opthalmology & Visual Science;2023-03-16

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