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Article

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype.

European journal of medical genetics - 1 Aug 2017

Cao Yang, AlHumaidi Susan S, Faqeih Eissa A, Pitel Beth A, Lundquist Patrick, Aypar Umut

Abstract excerpt

Here we report the smallest deletion involving SNURF/SNRPN that causes major symptoms of Prader-Willi syndrome (PWS), including hypotonia, dysmorphic features, intellectual disability, and obesity. A female patient with the aforementioned and additional features was referred to the Mayo Clinic Cytogenetics laboratory for genetic testing. Chromosomal microarray analysis and subsequent Sanger sequencing identified...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28554868
DOI: 10.1016/j.ejmg.2017.05.003

Genes

SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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