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

Novel RNASET2 Pathogenic Variants in an East Asian Child with Delayed Psychomotor Development.

Fetal and pediatric pathology - 1 Feb 2018

Sun Yan, Hu Xuyun, Song Jiqing, Hu Yanyan, Liu Caihong, Li Guimei

Abstract excerpt

INTRODUCTION: RNASET2 mutation has been reported in patients with cystic leukoencephalopathy without megalencephaly and the Aicardi-Goutieres syndrome. Both disorders are Mendelian mimics of congenital cytomegalovirus infection with overlapping features, including leukoencephalopathy, white matter alterations, intracranial calcification, delayed psychomotor development, intelligence disability and seizures. Only...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Child, Preschool
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Mutation

Share to Phenotype

Share to Ribonucleases

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 29336640
DOI: 10.1080/15513815.2017.1388456

Genes

RNASET2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel RNASET2 Pathogenic Variants in an East Asian Child with Delayed Psychomotor Development.PMID 29336640Read ↗

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.Semantic proximity Read ↗

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.Semantic proximity Read ↗

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.Semantic proximity Read ↗

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.Semantic proximity Read ↗

A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation.Semantic proximity Read ↗

Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.Semantic proximity Read ↗

p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.Semantic proximity Read ↗

The first CDC42 variant (p.Arg68Gln) associated with Takenouchi-Kosaki syndrome in Asia: a case report and literature reviewSemantic proximity Read ↗

Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.Semantic proximity Read ↗

Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation.Semantic proximity Read ↗

Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent.Semantic proximity Read ↗

INTS11-related neurodevelopmental disorder: a case report and literature review.Semantic proximity Read ↗

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