Postzygotic mosaicism of a novel <scp> <i>PTPN11</i> </scp> mutation in monozygotic twins discordant for metachondromatosis-Reference-Cited by-同舟云学术

Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis

Published:2022-02-02 Issue:5 Volume:188 Page:1482-1487
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Rydzanicz Małgorzata¹^ORCID,Glinkowski Wojciech²^ORCID,Walczak Anna¹^ORCID,Koppolu Agnieszka¹³^ORCID,Kostrzewa Grażyna¹,Gasperowicz Piotr¹,Pollak Agnieszka¹^ORCID,Stawiński Piotr¹,Płoski Rafał¹^ORCID

Affiliation:

1. Department of Medical Genetics Medical University of Warsaw Warsaw Poland

2. Center of Excellence “TeleOrto” for Telediagnostics and Treatment of Disorders and Injuries of the Locomotor System, Department of Medical Informatics and Telemedicine Medical University of Warsaw Warsaw Poland

3. Postgraduate School of Molecular Medicine Medical University of Warsaw Warsaw Poland

Funder

Narodowe Centrum Nauki

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62670

Reference27 articles.

1. Chimerism involving a RB1 pathogenic variant in monochorionic dizygotic twins with twin–twin transfusion syndrome

2. A genomic view of mosaicism and human disease

3. Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

4. Somatic mosaicism: implications for disease and transmission genetics

5. Monozygotic twins discordant for trisomy 21: Discussion of etiological events involved

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2. Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals;The American Journal of Human Genetics;2023-04

3. Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies;Genes, Chromosomes and Cancer;2022-07-16