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

[Clinical and genetic analysis of a family with Pelizaeus-Merzbacher disease].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Dec 2007

Wang Hui-fang, Wu Ye, Jiang Yu-wu, Wang Jing-min, Tang Ming-ke, Zhang Yue-hua, Qin Jiong, Lin Qing, Wu Xi-ru

Abstract excerpt

OBJECTIVE: Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive leukoencephalopathy. Few reports of PMD patients without genetic confirmation have been published in the mainland of China. The clinical and genetic features of a family with PMD were analyzed, which may contribute to definite diagnosis, genetic counseling and prenatal diagnosis of this rare hereditary disease in China. METHODS: Clinical...

Read the complete abstract on PubMed

Topics

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

Share to DNA Probes
Share to Genes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Infant

Share to Myelin Proteolipid Protein

Share to Pedigree

Share to Pelizaeus-Merzbacher Disease

Share to Phenotype

Source

Identifiers

PMID: 18339279

Genes

PLP1

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

[Clinical and genetic analysis of a family with Pelizaeus-Merzbacher disease].PMID 18339279Read ↗

Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea.Semantic proximity Read ↗

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease as a chromosomal disorder.Semantic proximity Read ↗

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease, easily misdiagnosed as cerebral palsy: a report of a three-generation family.Semantic proximity Read ↗

PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.Semantic proximity Read ↗

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.Semantic proximity Read ↗

Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Neurogenetics of Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.Semantic proximity Read ↗

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