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10.1002/ajmg.a.36828

http://scihub22266oqcxt.onion/10.1002/ajmg.a.36828
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25346259!ä!25346259

suck abstract from ncbi


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pmid25346259      Am+J+Med+Genet+A 2015 ; 167A (1): 40-4
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  • Function and disability in children with Costello syndrome and Cardiofaciocutaneous syndrome #MMPMID25346259
  • Johnson B; Goldberg-Strassler D; Gripp K; Thacker M; Leoni C; Stevenson D
  • Am J Med Genet A 2015[Jan]; 167A (1): 40-4 PMID25346259show ga
  • There is limited research on function in individuals with RASopathies. Our hypothesis was that there was function and disability differences between Costello syndrome (CS) and Cardiofaciocutaneous syndrome (CFCS). The purpose of this study was to describe and compare the functional performance and level of disability of children with CS and CFCS using the Pediatric Outcomes Data Collection Instrument (PODCI) and Pediatric Evaluation of Disability Index (PEDI). Parents of individuals with a medical diagnosis of CS and CFCS completed the computer or paper version of the questionnaires. Comparisons of response data were made between the two syndromes and published normative data. Fifty-two parents participated in the study, 38 in the CS group and 14 in the CFCS group. There were no significant differences in PODCI or PEDI scores between the CS and CFCS groups. There were statistically significant differences from normative values for all PODCI domains (P
  • |*Disabled Persons[MESH]
  • |Adolescent[MESH]
  • |Child[MESH]
  • |Child, Preschool[MESH]
  • |Costello Syndrome/*physiopathology[MESH]
  • |Ectodermal Dysplasia/*physiopathology[MESH]
  • |Facies[MESH]
  • |Failure to Thrive/*physiopathology[MESH]
  • |Female[MESH]
  • |Heart Defects, Congenital/*physiopathology[MESH]
  • |Humans[MESH]


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