Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family

Ingrid Tatyana Bernal-Bonilla,1 Juan Sebastian Arias-Florez,1 Sandra Ximena Ramirez,2 Bibiana Alejandra Bayona-Gomez,3 Lina Castro-Castillo,3 Valeria Correa-Martinez,4 Yasmín Sanchez-Gomez,5 Natalia Santiago-Tovar,6 Cristian Camilo Gaviria-Sabogal,6 Nora Constanza Contreras Bravo,6 Rodrigo Cabrera,6...

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Bibliografski detalji

Glavni autori:	Bernal-Bonilla IT, Arias-Florez JS, Ramirez SX, Bayona-Gomez BA, Castro-Castillo L, Correa-Martinez V, Sanchez-Gomez Y, Santiago-Tovar N, Gaviria-Sabogal CC, Contreras Bravo NC, Cabrera R, Morel A, Fonseca-Mendoza DJ, Restrepo CM
Format:	Artigo
Jezik:	Inglês
Izdano:	Dove Medical Press 2025-09-01
Serija:	The Application of Clinical Genetics
Teme:	Peroxisome biogenesis disorder Zellweger syndrome Neonatal adrenoleukodystrophy Heimler syndrome Very long chain fatty acids Molecular Variant
Online pristup:	https://www.dovepress.com/detection-of-a-novel-homozygous-pex5-stop-loss-variant-associated-with-peer-reviewed-fulltext-article-TACG
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