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Article

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

American journal of medical genetics. Part A - 1 Nov 2020

Slater Brady, Glinton Kevin, Dai Hongzheng, Lay Erica, Karaviti Lefkothea, Mizerik Elizabeth, Murali Chaya N, Lalani Seema R, Bacino Carlos A, Rossetti Linda Z

Abstract excerpt

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...

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Identifiers

PMID: 32885560
DOI: 10.1002/ajmg.a.61842

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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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