Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants-Reference-Cited by-同舟云学术

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Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

Published:2019-02-19 Issue:4 Volume:7 Page:632-637
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Gupta Aditi¹²^ORCID,Ewing Sarah A.³,Renaud Deborah L.⁴⁵,Hasadsri Linda⁶,Raymond Kimiyo M.³⁶,Klee Eric W.¹²³⁶,Gavrilova Ralitza H.³⁵

Affiliation:

1. Center for Individualized Medicine Mayo Clinic Rochester Minnesota

2. Department of Health Sciences Research Mayo Clinic Rochester Minnesota

3. Department of Clinical Genomics Mayo Clinic Rochester Minnesota

4. Department of Pediatric and Adolescent Medicine Mayo Clinic Rochester Minnesota

5. Department of Neurology Mayo Clinic Rochester Minnesota

6. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota

Funder

Center for Individualized Medicine at Mayo Clinic

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.2010

Reference17 articles.

1. Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses

2. Contribution of EXT1, EXT2, and EXTL3 to Heparan Sulfate Chain Elongation

3. A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome

4. A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

5. Novel exostosin‐2 missense variants in a family with autosomal recessive exostosin‐2‐related syndrome: further evidences on the phenotype

Cited by 6 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. Knockout of the intellectual disability-linked gene Hs6st2 in mice decreases heparan sulfate 6-O-sulfation, impairs dendritic spines of hippocampal neurons, and affects memory;Glycobiology;2023-11-28

2. Relating enhancer genetic variation across mammals to complex phenotypes using machine learning;Science;2023-04-28

3. Relating enhancer genetic variation across mammals to complex phenotypes using machine learning;2022-08-26

4. Autosomal recessive EXT2 syndrome - extending the phenotypic spectrum of an emerging condition, a further case?;Clinical Dysmorphology;2022-01-17

5. Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era;BMC Medical Genomics;2021-06-06

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