Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome-Reference-Cited by-同舟云学术

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Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome

Published:2020-03 Issue:2 Volume:37 Page:333-336
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Shankar Sukesh Gautam¹^ORCID,Rangarajan Sudha¹,Priyadarshini Anuradha¹,Swaminathan Adikrishnan¹,Sundaram Murugan¹

Affiliation:

1. Department of Dermatology, Venereology and Leprology Sri Ramachandra Institute of Higher Education and Research (SRIHER) Porur India

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14075

Reference12 articles.

1. The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

2. H syndrome - A case report

3. H Syndrome: A Multifaceted Histiocytic Disorder with Hyperpigmentation and Hypertrichosis

4. The H syndrome: a genodermatosis;Bhatti S;Cureus,2018

5. Human Equilibrative Nucleoside Transporter-3 (hENT3) Spectrum Disorder Mutations Impair Nucleoside Transport, Protein Localization, and Stability

Cited by 3 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. A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review;BMC Medical Genomics;2024-07-04

2. H syndrome caused by a novel P324S mutation in SLC29A3 gene;International Journal of Dermatology;2022-05-12

3. Association of Equiliberative Nucleoside Transporter (ENT) with liver fibrosis stage in Hepatitis-C;Journal of the Pakistan Medical Association;2022-01-28

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