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10.1542/peds.2016-0182

http://scihub22266oqcxt.onion/10.1542/peds.2016-0182
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27940666!ä!27940666

suck abstract from ncbi


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pmid27940666      Pediatrics 2016 ; 138 (6): ä
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  • RASopathies Are Associated With Delayed Puberty; Are They Associated With Precocious Puberty Too? #MMPMID27940666
  • van der Kaay DC; Levine BS; Doyle D; Mendoza-Londono R; Palmert MR
  • Pediatrics 2016[Dec]; 138 (6): ä PMID27940666show ga
  • 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 the hypothalamic-pituitary-gonadal axis and the timing of puberty by the rat sarcoma-mitogen-activated protein kinase pathway. Additional study of the timing of puberty among patients with RASopathies is warranted to ascertain the incidence of delayed and precocious puberty in these conditions and to examine genotype-phenotype correlations, which may provide insight into pathways that regulate the timing of puberty.
  • |Abnormalities, Multiple/diagnosis/epidemiology[MESH]
  • |Adolescent[MESH]
  • |Child[MESH]
  • |Costello Syndrome/complications/genetics[MESH]
  • |Ectodermal Dysplasia/complications/genetics[MESH]
  • |Facies[MESH]
  • |Failure to Thrive/complications/genetics[MESH]
  • |Female[MESH]
  • |Genetic Predisposition to Disease/*epidemiology[MESH]
  • |Heart Defects, Congenital/complications/genetics[MESH]
  • |Humans[MESH]
  • |Incidence[MESH]
  • |Male[MESH]
  • |Noonan Syndrome/complications/genetics[MESH]
  • |Proto-Oncogene Proteins p21(ras)/*genetics[MESH]
  • |Puberty, Delayed/*etiology/physiopathology[MESH]
  • |Puberty, Precocious/*etiology/physiopathology[MESH]
  • |Risk Assessment[MESH]
  • |Sampling Studies[MESH]
  • |Sensitivity and Specificity[MESH]


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