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

[Analysis of TUBB4A gene variant in a patient with adolescent-onset hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2023

Ying Zixuan, Cheng Xi, Xu Xiaoquan, Ma Zhi, Chen Zhengyu, Chen Wen, Qin Lang, Niu Qi

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a patient with adolescent-onset hypomyelinated leukodystrophy with atrophy of basal ganglia and cerebellum (H-ABC). METHODS: A patient who was diagnosed with H-ABC in March 2018 at the First Affiliated Hospital of Nanjing Medical University was selected as the study subject. Clinical data was collected. Peripheral venous blood samples of...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Atrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Basal Ganglia

Share to Cerebellum

Share to Magnetic Resonance Imaging

Share to Mutation

Share to Tubulin

Source

Identifiers

PMID: 36972930
DOI: 10.3760/cma.j.cn511374-20201215-00879

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

[Analysis of TUBB4A gene variant in a patient with adolescent-onset hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum].PMID 36972930Read ↗

[A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A) gene and literature review].Semantic proximity Read ↗

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.Semantic proximity Read ↗

TUBB4A de novo mutations cause isolated hypomyelination.Semantic proximity Read ↗

Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.Semantic proximity Read ↗

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.Semantic proximity Read ↗

Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism.Semantic proximity Read ↗

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.Semantic proximity Read ↗

Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy.Semantic proximity Read ↗

Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A.Semantic proximity Read ↗

[Research advances in the clinical genetics of leukodystrophy in children].Semantic proximity Read ↗

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.Semantic proximity Read ↗

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