LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome

LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome

Abstract Nail-Patella syndrome (NPS) is a rare autosomal dominant condition due to haploinsufficiency of LMX1B, caused by loss-of-function variants affecting the coding sequence, or partial/whole deletions of the gene. In here, we describe two familial cases of NPS, carrying novel variants of the LM...

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Main Authors: Serena Cappato, Maria Teresa Divizia, Ludovica Menta, Giulia Rosti, Aldamaria Puliti, Joana Soraia Martinheira Da Silva, Giuseppe Santamaria, Marco Di Duca, Patrizia Ronchetto, Francesca Faravelli, Federico Zara, Renata Bocciardi
Format: Article
Language:English
Published: Nature Portfolio 2025-02-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-024-00460-6
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https://doi.org/10.1038/s41525-024-00460-6

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