Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications

BACKGROUND: Phenotypically discordant monozygotic twins (PDMZTs) offer a unique opportunity to study post‐zygotic genetic variation and provide insights into the linkage between genotype and phenotype. We report a comprehensive analysis of a pair of PDMZTs. METHODS: Dysmorphic features and delayed n...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Genet Genomic Med
Päätekijät: Rydzanicz, Małgorzata, Olszewski, Pawel, Kedra, Darek, Davies, Hanna, Filipowicz, Natalia, Bruhn‐Olszewska, Bozena, Cavalli, Marco, Szczałuba, Krzysztof, Młynek, Marlena, Machnicki, Marcin M., Stawiński, Piotr, Kostrzewa, Grażyna, Krajewski, Paweł, Śladowski, Dariusz, Chrzanowska, Krystyna, Dumanski, Jan P., Płoski, Rafał
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2020
Aiheet:
Original Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7963419/
https://ncbi.nlm.nih.gov/pubmed/33319479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1526
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