First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection-Reference-Cited by-同舟云学术

First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection

Published:2020-12-11 Issue:2 Volume:185 Page:591-595
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Moreno‐García Marta¹^ORCID,Arteche‐López Ana Rosa¹,Álvarez‐Mora María Isabel¹,Palma Milla Carmen¹^ORCID,Quesada Espinosa Juan Francisco¹,Lezana Rosales José Miguel¹,Sánchez Calvín María Teresa¹,Gómez Manjón Irene¹,Gómez Rodríguez María José¹,Mendez‐Guerrero Antonio²,Villarejo‐Galende Alberto³⁴

Affiliation:

1. Department of Genetics University 12 de Octubre Hospital Madrid Spain

2. Department of Neurology University 12 de Octubre Hospital Madrid Spain

3. Department of Neurology, University 12 de Octubre Hospital, Neurodegenerative Diseases Study Group, I+12, CIBERNED Universidad Complutense Madrid Spain

4. Department of Medicine Universidad Complutense Madrid Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61999

Reference25 articles.

1. Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

2. The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism

3. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

4. A new de novo Notch3 mutation causing CADASIL

5. Enhanced Sensitivity for Detection of Low-Level Germline MosaicRB1Mutations in Sporadic Retinoblastoma Cases Using Deep Semiconductor Sequencing

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