Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum-Reference-Cited by-同舟云学术

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

Published:2016-04-04 Issue:8 Volume:31 Page:1577-1585
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Taylan Fulya¹,Costantini Alice¹,Coles Nicole²,Pekkinen Minna³,Héon Elise²,Şıklar Zeynep⁴,Berberoğlu Merih⁴,Kämpe Anders¹,Kıykım Ertuğrul⁵,Grigelioniene Giedre¹⁶,Tüysüz Beyhan⁷,Mäkitie Outi¹³⁶⁸

Affiliation:

1. Department of Molecular Medicine and Surgery; Center for Molecular Medicine; Karolinska Institutet; Stockholm Sweden

2. Department of Pediatric Endocrinology of Metabolism; The Hospital for Sick Children; University of Toronto; Toronto Canada

3. Folkhälsan Institute of Genetics; Helsinki; Finland

4. Department of Pediatric Endocrinology; School of Medicine; Ankara University; Ankara Turkey

5. Department of Pediatric Metabolism; Cerrahpasa Medicine School; Istanbul University; Istanbul Turkey

6. Department of Clinical Genetics; Karolinska University Hospital; Stockholm Sweden

7. Department of Pediatric Genetics; Cerrahpasa Medicine School; Istanbul University; Istanbul Turkey

8. Children's Hospital; University of Helsinki and Helsinki University Hospital; Helsinki Finland

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jbmr.2834/fullpdf

Reference21 articles.

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3. Human xylosyltransferase II is involved in the biosynthesis of the uniform tetrasaccharide linkage region in chondroitin sulfate and heparan sulfate proteoglycans;Ponighaus;J Biol Chem,2007

4. A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes;Jones;Am J Med Genet A,2015

5. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders;Nakajima;Am J Hum Genet,2013

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