The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

The RASopathies are a group of clinically and genetically heterogeneous developmental disorders caused by dysregulation of the RAS/MAPK signalling pathway. Variants in several components and regulators of this pathway have been identified as the pathogenetic cause. In 2015, missense variants in A2ML...

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Библиографические подробности
Опубликовано в: :Eur J Hum Genet
Главные авторы: Brinkmann, Julia, Lissewski, Christina, Pinna, Valentina, Vial, Yoann, Pantaleoni, Francesca, Lepri, Francesca, Daniele, Paola, Burnyte, Birute, Cuturilo, Goran, Fauth, Christine, Gezdirici, Alper, Kotzot, Dieter, Güleç, Elif Yılmaz, Iotova, Violeta, Schanze, Denny, Ramond, Francis, Havlovicová, Markéta, Utine, Gulen Eda, Simsek-Kiper, Pelin Ozlem, Stoyanova, Milena, Verloes, Alain, De Luca, Alessandro, Tartaglia, Marco, Cavé, Hélène, Zenker, Martin
Формат: Artigo
Язык:Inglês
Опубликовано: Springer International Publishing 2020
Предметы:
Brief Communication
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7940614/
https://ncbi.nlm.nih.gov/pubmed/33082526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00743-3
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