Article
RASopathies Are Associated With Delayed Puberty; Are They Associated With Precocious Puberty Too?
Pediatrics - 1 Dec 2016
van der Kaay Daniëlle C M, Levine Bat-Sheva, Doyle Daniel, Mendoza-Londono Roberto, Palmert Mark R
Abstract excerpt
RASopathies, such as Noonan, Costello, and cardio-facio-cutaneous syndromes, are developmental disorders caused by mutations in rat sarcoma-mitogen-activated protein kinase pathway genes. Mutations that cause Noonan syndrome have been associated with delayed puberty. Here we report 4 patients with either Costello or cardio-facio-cutaneous syndrome who developed precocious puberty, suggesting complex regulation of...
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