Co‐occurrence of Aicardi–Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1 : a case series from India-Reference-Cited by-同舟云学术

Co‐occurrence of Aicardi–Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1 : a case series from India

Published:2021-01-04 Issue:4 Volume:46 Page:704-709
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Sathishkumar D.¹^ORCID,Muthusamy K.²,Gupta A.¹,Malhotra M.²,Thomas M.²,Koshy B.³,Jasper A.⁴,Danda S.⁵,George R.¹

Affiliation:

1. Departments of Department of Dermatology Christian Medical College and Hospital Vellore Tamil NaduIndia

2. Department of Paediatric Neurology Christian Medical College and Hospital Vellore Tamil NaduIndia

3. Department of Developmental Paediatrics Christian Medical College and Hospital Vellore Tamil NaduIndia

4. Department of Radiology Christian Medical College and Hospital Vellore Tamil NaduIndia

5. Department of Medical Genetics Christian Medical College and Hospital Vellore Tamil Nadu India

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ced.14531

Reference10 articles.

1. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

2. Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene

3. Seven novel mutations of ADAR in multi‐ethnic pedigrees with dyschromatosis symmetrica hereditaria in China

4. Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations

5. Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria

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2. Infantile-onset generalized dystonia with pigmentary mosaicism in ADAR gene mutation: A novel neurocutaneous phenotype;Parkinsonism & Related Disorders;2023-10

3. Dyschromatosis symmetrica hereditaria: A clue to early diagnosis of Aicardi–Goutières syndrome;Pediatric Dermatology;2023-09-28

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