A human case of SLC35A3 ‐related skeletal dysplasia-Reference-Cited by-同舟云学术

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A human case of SLC35A3 ‐related skeletal dysplasia

Published:2017-08-04 Issue:10 Volume:173 Page:2758-2762
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Edmondson Andrew C.¹²^ORCID,Bedoukian Emma C.³,Deardorff Matthew A.¹²,McDonald‐McGinn Donna M.³,Li Xueli⁴,He Miao²⁴,Zackai Elaine H.¹²

Affiliation:

1. Division of Human Genetics, Department of PediatricsThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvania

2. Department of PediatricsPerelman School of Medicine of the University of PennsylvaniaPhiladelphiaPennsylvania

3. Section of Genetic CounselingDivision of Human Genetics, Department of PediatricsThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvania

4. Division of Laboratory Medicine, Department of Pathology and Laboratory MedicineThe Children's Hospital of PhiladelphiaPhiladelphiaPennsylvania

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38374

Reference16 articles.

1. The skeletal manifestations of the congenital disorders of glycosylation

2. Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

3. Evaluation ofSLC35A3 as a candidate gene for human vertebral malformations

4. Molecular Cloning and Functional Expression of the Human Golgi UDP-N-Acetylglucosamine Transporter

5. Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation

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1. Solute Carrier Family 35 (SLC35)—An Overview and Recent Progress;Biologics;2024-08-15

2. Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis;Frontiers in Pediatrics;2023-09-07

3. The glycosylation defect in solute carrier SLC35A2/SLC35A3 double knockout cells is rescued by SLC35A2–SLC35A3 and SLC35A3–SLC35A2 hybrids;FEBS Letters;2023-08-15

4. Mice lacking nucleotide sugar transporter SLC35A3 exhibit lethal chondrodysplasia with vertebral anomalies and impaired glycosaminoglycan biosynthesis;PLOS ONE;2023-04-13

5. Genetics of non‐isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases;Clinical Genetics;2022-07-21

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