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

Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomalies.

Clinical dysmorphology - 1 Jan 2026

Nerakh Gayatri, Dhareneni Prashanth Rao, Kotecha Udhaya

Abstract excerpt

OBJECTIVE: The Rho GTPase gene family plays a crucial role in key cellular functions. RAC3, one of the three genes in this family, along with RAC1 and RAC2, is highly expressed in the brain. It is specifically involved in neuronal differentiation, maturation, and migration. Therefore, dysregulation of RAC3 can lead to neurodevelopmental abnormalities. METHODS: Here we report two siblings, born to a...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Exome Sequencing
Share to India

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Magnetic Resonance Imaging

Share to Neurodevelopmental Disorders

Share to rac GTP-Binding Proteins

Share to Siblings

Source

Identifiers

PMID: 41198064
DOI: 10.1097/MCD.0000000000000540

Genes

RAC3
RAC1
RAC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomalies.PMID 41198064Read ↗

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.Semantic proximity Read ↗

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.Semantic proximity Read ↗

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.Semantic proximity Read ↗

DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.Semantic proximity Read ↗

KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype.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 ↗

Neurodevelopmental disorder associated with gene ARF3: A case report.Semantic proximity Read ↗

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

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.Semantic proximity Read ↗

Case Report: A Case Report and Literature Review of 3p Deletion SyndromeSemantic proximity Read ↗

Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations.Semantic proximity Read ↗

PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.Semantic proximity Read ↗

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