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Article

[A novel PORCN gene mutation in a patient with focal dermal hypoplasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2010

Liu Yumei, Zhou Xin, Deng Huiyan, He Yuqing, Zhu Huilan, Zhang Xibao

Abstract excerpt

OBJECTIVE: To detect the mutation of PORCN gene in a patient with focal dermal hypoplasia and study the genotype-phenotype correlation. METHODS: Peripheral blood samples were obtained from the family members and control subjects. PCR was carried out to amplify all the exons and adjacent splice si...

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Source

Identifiers

PMID: 21154331
DOI: 10.3760/cma.j.issn.1003-9406.2010.06.016

Genes

PORCN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21154331-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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