Homozygous XYLT2 variants as a cause of spondyloocular syndrome-Reference-Cited by-同舟云学术

Homozygous XYLT2 variants as a cause of spondyloocular syndrome

Published:2018-02-20 Issue:4 Volume:93 Page:913-918
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Umair M.¹²³^ORCID,Eckstein G.¹,Rudolph G.⁴,Strom T.¹,Graf E.¹,Hendig D.⁵,Hoover J.⁶,Alanay J.²,Meitinger T.¹²,Schmidt H.⁴,Ahmad W.³^ORCID

Affiliation:

1. Institute of Human Genetics; Helmholtz Zentrum Munchen; Neuherberg Germany

2. Institute of Human Genetics; Technische Universitat; Munchen Germany

3. Department of Biochemistry, Faculty of Biological Sciences; Quaid-i-Azam University; Islamabad Pakistan

4. University Eye Hospital; Ludwig Maximilians University; Munich Germany

5. Institute for Laboratory and Transfusion Medicine, Heart and Diabetes, Center North Rhine-Westphalia, University Hospital of the Ruhr University; Ruhr Germany

6. University Children's Hospital; Division of Endocrinology and Diabetology; Munich Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13179/fullpdf

Reference19 articles.

1. Mechanism of lipoprotein retention by the extracellular matrix;Gustafsson;Curr Opin Lipidol,2004

2. Biosynthesis and regulation of expression of proteoglycans;Schwartz;Front Biosci,2000

3. An introduction to proteoglycans and their localization;Couchman;J Histochem Cytochem,2012

4. Molecular cloning and expression of human UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase and its first isoform XT-II;Gotting;J Mol Biol,2000

5. The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation;Schreml;Hum Genet,2014

Cited by 25 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. Spondyloocular Syndrome: First Case of Rare Osseous and Ocular Syndrome from India with Novel Mutation and Expanded Phenotypic Spectrum;Calcified Tissue International;2024-06-03

2. Xylosyltransferase-Deficiency in Human Dermal Fibroblasts Induces Compensatory Myofibroblast Differentiation and Long-Term ECM Reduction;Biomedicines;2024-03-04

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

4. Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome;Genes;2023-05-19

5. Japanese medaka Olpax6.1 mutant as a potential model for spondylo-ocular syndrome;Functional & Integrative Genomics;2023-05-19