Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Dyschromatosis symmetrica hereditaria: A clue to early diagnosis of Aicardi-Goutières syndrome.

Pediatric dermatology - 1 Jan 2000

Ahmed Fahad, Do Ngan, Vanderver Adeline L, Treat James R

Abstract excerpt

A 6-year-old female with a history of Aicardi-Goutières syndrome (AGS) presented to dermatology clinic with hypopigmented and hyperpigmented macules and patches consistent with dyschromatosis symmetrica hereditaria (DSH). Previous genetic workup demonstrated a de novo, heterozygous mutation in the adenosine deaminase acting on RNA 1 (ADAR) gene. While the co-occurrence of AGS and DSH has previously been described...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenosine Deaminase
Share to Autoimmune Diseases of the Nervous System

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperpigmentation

Share to Mutation

Share to Nervous System Malformations

Share to Pedigree

Share to Pigmentation Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 37770123
DOI: 10.1111/pde.15437
PMCID: PMC10873022

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dyschromatosis symmetrica hereditaria: A clue to early diagnosis of Aicardi-Goutières syndrome.PMID 37770123Read ↗

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.Semantic proximity Read ↗

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.Semantic proximity Read ↗

A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review.Semantic proximity Read ↗

Dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants.Semantic proximity Read ↗

Four novel mutations of ADAR1 in Chinese patients with dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

Multi-dimensional insight into the coexistence of pathogenic genes for ADAR1 and TSC2: careful consideration is essential for interpretation of ADAR1 variantsSemantic proximity Read ↗

Identification of Five Novel Variants of ADAR1 in Dyschromatosis Symmetrica Hereditaria by Next-generation SequencingSemantic proximity Read ↗

Six novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

A novel insertion mutation in the ADAR1 gene of a Chinese family with dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

Two new mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.