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Article

Single nucleotide polymorphism array analysis uncovers a large, novel duplication in Xq13.1 in a floppy infant syndrome patient.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 May 2019

Liu Min, Wang Yuhuan, Yang Sijia, Wei He, Tuo Miao, Chang Fei, Wang Yuhui

Abstract excerpt

OBJECTIVE: To identify candidate genes for the clinical diagnosis of floppy infant syndrome (FIS) using single nucleotide polymorphism (SNP) array in a specific FIS family. METHODS: SNP array analysis of the whole chromosome copy number was performed in the proband (III1). Multiple polymerase chain reaction (PCR) combined with denaturing high-performance liquid chromatography (DHPLC) was used to validate the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 30217625
DOI: 10.1016/j.ijdevneu.2018.09.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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