LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis

BACKGROUND: Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardiovascular defects. LZTR1 variants have been recently described in patients with NS and schwannomatosis, but the association, inheritance pattern and management strategy has n...

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Detalles Bibliográficos
Autores principales: Farncombe, Kirsten M., Thain, Emily, Barnett-Tapia, Carolina, Sadeghian, Hamid, Kim, Raymond H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9288044/
https://www.ncbi.nlm.nih.gov/pubmed/35840934
http://dx.doi.org/10.1186/s12920-022-01304-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9288044/
https://www.ncbi.nlm.nih.gov/pubmed/35840934
http://dx.doi.org/10.1186/s12920-022-01304-x

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