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Article

[Accurate detection of a case with Angelman syndrome (type 1) using SNP array].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2016

Shi Shanshan, Lin Shaobin, Liao Yanfen, Li Weijing

Abstract excerpt

OBJECTIVE: To analyze a case with Angelman syndrome (AS) using single nucleotide polymorphism array (SNP array) and explore its genotype-phenotype correlation. METHODS: G-banded karyotyping and SNP array were performed on a child featuring congenital malformations, intellectual disability and developmental delay. Mendelian error checking based on the SNP information was used to delineate the parental origin of...

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PMID: 27984614
DOI: 10.3760/cma.j.issn.1003-9406.2016.06.017

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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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