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Article

Deletion of SNURF/SNRPN U1B and U1B* upstream exons in a child with developmental delay and excessive weight.

Journal of genetics - 1 Sept 2016

Koufaris Costas, Alexandrou Angelos, Papaevripidou Ioannis, Alexandrou Ioanna, Christophidou-Anastasiadou Violetta, Sismani Carolina

Abstract excerpt

Prader-Willi syndrome is a rare syndrome characterized by hypotonia, developmental delay and excessive appetite. This syndrome is caused by the loss of function of paternally-expressed genes located in an imprinting centre in 15q11-q13. Here, we report the case of a patient who was referred to us with Prader-Willi syndrome-like symptoms including obesity and developmental delay. Examination of this patient...

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Topics

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Share to Chromosomes, Human, Pair 15
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27659333
DOI: 10.1007/s12041-016-0666-6

Genes

SNRPN

Variants

Provenance

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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