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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Materias: | |
| 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 |