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

FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.

Molecular genetics & genomic medicine - 1 Apr 2022

Badura-Stronka Magdalena, Śmigiel Robert, Rutkowska Karolina, Szymańska Krystyna, Hirschfeld Adam Sebastian, Monkiewicz Michał, Kosińska Joanna, Wolańska Ewelina, Rydzanicz Małgorzata, Latos-Bieleńska Anna, Płoski Rafał

Abstract excerpt

We report for the first time a novel missense variant in NHLRC2. We extend the NHLRC2 gene associated neuropsychological and neuroimaging phenotype, and propose that the NHLRC2 gene should be considered in patients with symptoms of atypical Rett syndrome. We also summarise currently available literature on neuropsychological symptoms in children with FINCA who survived into late childhood. BACKGROUND: By 2021, 10...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Rett Syndrome

Share to Survivors

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 35255187
DOI: 10.1002/mgg3.1899
PMCID: PMC9000936

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.PMID 35255187Read ↗

Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.Semantic proximity Read ↗

FINCA syndrome beyond pulmonary affection: biallelic NHLRC2 variants in eight families with intellectual disability and epilepsySemantic proximity Read ↗

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.Semantic proximity Read ↗

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.Semantic proximity Read ↗

FINCA disease mouse model exhibits altered behaviour and immune responseSemantic proximity Read ↗

Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease.Semantic proximity Read ↗

Developmental Outcomes of Aicardi Goutières Syndrome.Semantic proximity Read ↗

Relapsing-remitting clinical course expands the phenotype of Aicardi-Goutières syndrome.Semantic proximity Read ↗

Recognisable Neuroradiological Findings in Five Neurogenetic Disorders.Semantic proximity Read ↗

[Developmental manifestation in children with neurofibromatosis type 1].Semantic proximity Read ↗

NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.Semantic proximity Read ↗

Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.Semantic proximity Read ↗

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