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Article

Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.

American journal of medical genetics. Part A - 1 Jan 2018

Lande Asgeir, Kroken Mette, Rabben Kai, Retterstøl Lars

Abstract excerpt

The two imprinting syndromes Temple syndrome (TS14) and Prader-Willi syndrome (PWS) share many features in infancy and childhood. TS14 is an important, yet often neglected, differential diagnosis to PWS. We wanted to assess the frequency of TS14 among patients tested for PWS. In all samples submitted to our lab for genetic PWS testing during 2014 and 2015, we consecutively conducted additional analyses for TS14....

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Share to Chromosomes, Human, Pair 14
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29159982
DOI: 10.1002/ajmg.a.38533

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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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