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BACKGROUND: Living with a child who has a life-limiting condition (LLC) is likely to have a major impact on all family members. There is a need to have a clearer understanding of the nature and extent of this impact on parents and well-siblings. The…
Costello syndrome is a rare rasopathy caused by germline mutations in the oncogene HRAS resulting in increased signal transduction through the Ras/mitogen-activated protein kinase pathway. In contrast to the more common rasopathies, such as…