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Article

Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome.

Journal of clinical laboratory analysis - 1 Sept 2020

Zhang Chuan, Hao Shengju, Zhang Qinghua, Liu Furong, Zhou Bingbo, Xuan Feng, Xing Wang, Chen Xue, Wang Yan, Ma Panpan, Cao Zongfu, Ma Xu

Abstract excerpt

BACKGROUND: Silver-Russell syndrome (SRS) is a heterogeneous imprinting disorder featuring severe intrauterine and postnatal growth retardation and dysmorphic features. Pendred syndrome (PDS) is an autosomal recessive disorder caused by mutations in the SLC26A4 gene characterized by sensorineural hearing loss. METHODS: Karyotyping analysis was performed to investigate any chromosomal abnormalities. Whole-genome...

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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: 32666542
DOI: 10.1002/jcla.23407
PMCID: PMC7521231

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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