Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients
Author:
Affiliation:
1. Department of Medical Genetics; Oslo University Hospital; Oslo Norway
2. Faculty of Medicine; University of Oslo; Oslo Norway
3. Frambu Resource Center for Rare Disorders; Norway
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference14 articles.
1. Prader-Willi syndrome: A review of clinical, genetic, and endocrine findings;Angulo;Journal of Endocrinological Investigation,2015
2. Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype;Berends;American Journal of Medical Genetics,1999
3. New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome;Beygo;European Journal of Human Genetics,2017
4. Maternal UPD(14) in the patient with a normal karyotype: Clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome;Cox;American Journal of Medical Genetics Part A,2004
5. Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay;Dietz;Journal of Medical Genetics,2003
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