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Article

Unravelling the disease mechanism for TSPYL1 deficiency.

Human molecular genetics - 18 Dec 2020

Buyse Gunnar, Di Michele Michela, Wijgaerts Anouck, Louwette Sophie, Wittevrongel Christine, Thys Chantal, Downes Kate, Ceulemans Berten, Van Esch Hild, Van Geet Chris, Freson Kathleen

Abstract excerpt

We describe a lethal combined nervous and reproductive systems disease in three affected siblings of a consanguineous family. The phenotype was characterized by visceroautonomic dysfunction (neonatal bradycardia/apnea, feeding problems, hyperactive startle reflex), severe postnatal progressive neurological abnormalities (including abnormal neonatal cry, hypotonia, epilepsy, polyneuropathy, cerebral gray matter...

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Identifiers

PMID: 33075815
DOI: 10.1093/hmg/ddaa233

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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