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Article

[Genotype and phenotype analysis of two patients with Williams syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2016

Zhu Haiyan, Ji Chunyan, Zhang Hairong

Abstract excerpt

OBJECTIVE: To perform genetic analysis for two patients with supravalvular aortic stenosis and unusual facial features. METHODS: Cytogenetic and molecular genetic methods including chromosome karyotyping, multiplex ligation-dependent probe amplification (MLPA) and single nucleotide polymorphism array (SNP-array) were performed to detect potential mutation in the patients. RESULTS: No abnormal karyotype was...

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Identifiers

PMID: 26829738
DOI: 10.3760/cma.j.issn.1003-9406.2016.01.017

Genes

ELN
LIMK1

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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.

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