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

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.

BMC medical genetics - 21 Nov 2019

Zhao Sha, Luo Zhenqing, Xiao Zhenghui, Li Liping, Zhao Rui, Yang Yongjia, Zhong Yan

Abstract excerpt

BACKGROUND: Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION: A Chinese family with two offspring-patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound...

Read the complete abstract on PubMed

Topics

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

Share to Developmental Disabilities
Share to Fingers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microcephaly

Share to Muscle Hypotonia

Share to Myopia

Share to Retinal Degeneration

Share to Vesicular Transport Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 31752730
DOI: 10.1186/s12881-019-0920-x
PMCID: PMC6873578

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.PMID 31752730Read ↗

Cohen syndrome due to a novel stop-gain mutation in VPS13B gene: A case report and comparative study in affected siblings worldwideSemantic proximity Read ↗

[Analysis of variants of VPS13B gene in a child with Cohen syndrome].Semantic proximity Read ↗

Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosaSemantic proximity Read ↗

Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.Semantic proximity Read ↗

Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.Semantic proximity Read ↗

A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.Semantic proximity Read ↗

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.Semantic proximity Read ↗

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.Semantic proximity Read ↗

Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.Semantic proximity Read ↗

[Psychomotor retardation with neutropenia for more than one year in a toddler].Semantic proximity Read ↗

A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.Semantic proximity Read ↗

A Novel Variant in VPS13B Underlying Cohen Syndrome.Semantic proximity Read ↗

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