Study of the PTPN11 gene in Noonan syndrome patients and children with idiopathic short stature / "Estudo do gene PTPN11 em pacientes com a síndrome de Noonan e crianças com baixa estatura idiopática"
AUTOR(ES)
Lize Vargas Ferreira
DATA DE PUBLICAÇÃO
2005
RESUMO
Noonan syndrome (NS), characterized by short stature, dysmorphic facial and thoracic features and congenital heart disease, was associated to PTPN11 gene. We studied the PTPN11 in patients with NS, parents of mutation-positive NS patients and idiopathic short stature children with signs related to NS without fulfilling the diagnostic criteria. We found missense mutations in 42.3% of the NS group. Parents of NS mutation-positive patients did not present mutations, nor did children with short stature. The only statistically significant difference between groups with and without mutations was response to long term use of hGH, better on the mutation-negative group
ASSUNTO(S)
hormÔnio do crescimento/uso terapêutico sÍndrome de noonan/etiologia crianÇa noonan syndrome/genetics growth hormone/therapeutic use noonan syndrome/etiology body height/genetics child sÍndrome de noonan/genética protein-tyrosine-phosphatase/genetics estatura/genética fosfatase proteÍna-tirosina/genética
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