Masetti R

No ORCID on file · 1 paper in corpus
other 2022
Human genomics ·doi:10.1186/s40246-022-00414-y

BACKGROUND: CBL syndrome is a RASopathy caused by heterozygous germline mutations of the Casitas B-lineage lymphoma (CBL) gene. It is characterized by heterogeneous clinical phenotype, including developmental delay, facial dysmorphisms, car…