H syndrome caused by a novel <scp>P324S</scp> mutation in <scp>SLC29A3</scp> gene-Reference-Cited by-同舟云学术

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H syndrome caused by a novel P324S mutation in SLC29A3 gene

Published:2022-05-12 Issue:3 Volume:62 Page:
ISSN:0011-9059
Container-title:International Journal of Dermatology
language:en
Short-container-title:Int J Dermatology

Author:

Bhandari Molisha¹,Khullar Geeti¹^ORCID,Batra Satyendra²,Garg Arpit³,Khunger Niti¹,Verma Prashant¹^ORCID,Singh Amitabh²,Misra Ritu³,Yadav Amit Kumar⁴

Affiliation:

1. Department of Dermatology and Sexually Transmitted Diseases Vardhman Mahavir Medical College and Safdarjung Hospital New Delhi India

2. Department of Pediatrics Vardhman Mahavir Medical College and Safdarjung Hospital New Delhi India

3. Department of Radiodiagnosis Vardhman Mahavir Medical College and Safdarjung Hospital New Delhi India

4. Department of Pathology Vardhman Mahavir Medical College and Safdarjung Hospital New Delhi India

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijd.16264

Reference6 articles.

1. H syndrome: The first 79 patients

2. H syndrome: A rare case with homozygous mutation in SLC29A3 gene

3. A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature

4. The H syndrome: molecular diagnosis using next‐generation sequencing;Mruthyunjaya MD;AACE Clin Case Rep,2016

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

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