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

Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome.

Genes - 14 Dec 2022

Wang Qiwei, Qin Tingfeng, Wang Xun, Li Jing, Lin Xiaoshan, Wang Dongni, Lin Zhuoling, Zhang Xulin, Li Xiaoyan, Lin Haotian, Chen Weirong

Abstract excerpt

Warburg Micro syndrome (WARBM) is an autosomal recessive neuro-ophthalmologic syndrome characterized by microcephaly, microphthalmia, congenital cataracts, cortical dysplasia, corpus callosum hypoplasia, spasticity, and hypogonadism. WARBM is divided into four subtypes according to the causative genes, of which RAB3GAP1 (OMIM# 602536) accounts for the highest proportion. We collected detailed medical records and...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Cataract

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cornea

Share to Hypogonadism

Share to Intellectual Disability

Share to Microcephaly

Share to Optic Atrophy

Share to rab3 GTP-Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 36553631
DOI: 10.3390/genes13122364
PMCID: PMC9777746

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome.PMID 36553631Read ↗

Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.Semantic proximity Read ↗

From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients.Semantic proximity Read ↗

RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.Semantic proximity Read ↗

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.Semantic proximity Read ↗

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.Semantic proximity Read ↗

Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.Semantic proximity Read ↗

Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report.Semantic proximity Read ↗

Warburg Micro syndrome.Semantic proximity Read ↗

Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.Semantic proximity Read ↗

Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?Semantic proximity Read ↗

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.Semantic proximity Read ↗

Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome.Semantic proximity Read ↗

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