Sudden infant death with dysgenesis of the testes syndrome in a non‐Amish infant: A case report

Volume: 182, Issue: 11, Pages: 2751 - 2754
Published: Sep 4, 2020
Abstract
Sudden Infant Death with Dysgenesis of the Testes syndrome (SIDDT) is a very rare condition associated with biallelic pathogenic variants in the TSPYL1 gene first reported in 2004. It is characterized by sudden cardiac or respiratory arrest, disordered testicular development, neurologic dysfunction, and is uniformly fatal before the age of 12 months. There were previously 21 reported cases of SIDDT in the literature, all from nine Old Order...
Paper Details
Title
Sudden infant death with dysgenesis of the testes syndrome in a non‐Amish infant: A case report
Published Date
Sep 4, 2020
Volume
182
Issue
11
Pages
2751 - 2754
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