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Article

Chromosome 13q deletion syndrome involving 13q31‑qter: A case report.

Molecular medicine reports - 1 Jun 2017

Wang Yue-Ping, Wang Da-Jia, Niu Zhi-Bin, Cui Wan-Ting

Abstract excerpt

Partial deletions on the long arm of chromosome 13 lead to a number of different phenotypes depending on the size and position of the deleted region. The present study investigated 2 patients with 13q terminal (13qter) deletion syndrome, which manifested as anal atresia with rectoperineal fistula, complex type congenital heart disease, esophageal hiatus hernia with gastroesophageal reflux, facial anomalies and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28393221
DOI: 10.3892/mmr.2017.6425
PMCID: PMC5436299

Genes

EFNB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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