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

Progressive cerebral atrophies in three children with COL4A1 mutations.

Brain & development - 1 Nov 2021

Nakamura Yuko, Okanishi Tohru, Yamada Hiroyuki, Okazaki Tetsuya, Hosoda Chika, Itai Toshiyuki, Miyatake Satoko, Saitsu Hirotomo, Matsumoto Naomichi, Maegaki Yoshihiro

Abstract excerpt

BACKGROUND: The collagen type IV alpha 1 chain (COL4A1) gene on 13q34 encodes one chain of collagen. COL4A1 mutations have been identified as the cause of a group of multisystemic conditions in humans, including the brain, eyes, kidneys, muscles, and other organs at any age. Brain imaging shows a wide spectrum of abnormalities, including porencephaly, schizencephaly, polymicrogyria focal cortical dysplasia,...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Collagen Type IV

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Drug Resistant Epilepsy

Share to Mutation

Source

Identifiers

PMID: 34281745
DOI: 10.1016/j.braindev.2021.06.008

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

Progressive cerebral atrophies in three children with COL4A1 mutations.PMID 34281745Read ↗

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.Semantic proximity Read ↗

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.Semantic proximity Read ↗

Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant.Semantic proximity Read ↗

De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature.Semantic proximity Read ↗

Expanding the phenotype of COL4A1-related disorders-Four novel variants.Semantic proximity Read ↗

Childhood presentation of COL4A1 mutations.Semantic proximity Read ↗

COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria.Semantic proximity Read ↗

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.Semantic proximity Read ↗

Intracranial and Ocular Abnormalities in a Child with Neurodevelopmental DelaySemantic proximity Read ↗

Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype.Semantic proximity Read ↗

COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis.Semantic proximity Read ↗

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.Semantic proximity Read ↗

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