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A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.

Joint bone spine - 1 Oct 2013

Gu Jie-mei, Hu Yun-qiu, Zhang Hao, Wang Chun, Hu Wei-wei, Yue Hua, Liu Yu-juan, Zhang Zhen-lin

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Source

Identifiers

PMID: 23566664
DOI: 10.1016/j.jbspin.2013.02.008

Genes

NOTCH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.PMID 23566664Read ↗

A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome.Semantic proximity Read ↗

Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 MutationsSemantic proximity Read ↗

Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research.Semantic proximity Read ↗

Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome.Semantic proximity Read ↗

Essential phenotypes of NOTCH2NLC-related repeat expansion disorder.Semantic proximity Read ↗

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.Semantic proximity Read ↗

Hajdu-Cheney Syndrome: A Systematic Review of the Literature.Semantic proximity Read ↗

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.Semantic proximity Read ↗

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.Semantic proximity Read ↗

Novel mutation in SP2 in a Chinese pedigree with Neural tube defects.Semantic proximity Read ↗

Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.Semantic proximity Read ↗

A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic diversity.Semantic proximity Read ↗

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