Article
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.
American journal of medical genetics. Part A - 1 Jan 2016
Severi Giulia, Bernardini Laura, Briuglia Silvana, Bigoni Stefania, Buldrini Barbara, Magini Pamela, Dentici Maria L, Cordelli Duccio M, Arrigo Teresa, Franzoni Emilio, Fini Sergio, Italyankina Eleonora, Loddo Italia, Novelli Antonio, Graziano Claudio
Abstract excerpt
Temple syndrome (TS) is caused by abnormal expression of genes at the imprinted locus 14q32. A subset of TS patients carry 14q32 deletions of paternal origin. We aimed to define possible genotype-phenotype correlations and to highlight the prevalence of thyroid dysfunction, which is a previously unreported feature of TS. We described four new patients who carry deletions of paternal origin at 14q32 detected by...
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