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Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene
BACKGROUND: Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9392323/ https://www.ncbi.nlm.nih.gov/pubmed/35986401 http://dx.doi.org/10.1186/s13052-022-01340-4 |