Article
Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.
American journal of medical genetics. Part A - 1 May 2022
Rydzanicz Małgorzata, Glinkowski Wojciech, Walczak Anna, Koppolu Agnieszka, Kostrzewa Grażyna, Gasperowicz Piotr, Pollak Agnieszka, Stawiński Piotr, Płoski Rafał
Abstract excerpt
Genetic mosaicism caused by postzygotic mutations is of a great interest due to its role in human disease. Monozygotic twins arising from a single zygote are considered as genetically identical, and any differences likely to be caused by postzygotic events. Thus, phenotypically discordant monozygotic twins offer a unique opportunity to study genotype-phenotype correlation. Here, we present a three-generation...
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