Protein Tyrosine Phosphatase Genetics
Mostrando 1-2 de 2 artigos, teses e dissertações.
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1. Estudo do gene PTPN11 nos pacientes afetados pela síndrome de Noonan / The PTPN11 gene analysis in Noonan syndrome patients
INTRODUCTION: Noonan syndrome is an autosomal dominant disorder comprising short stature, facial dysmorphisms (ocular hypertelorism, downslanting palpebral fissures, palpebral ptosis, high arched palate and dental malocclusion), short and/or webbed neck, heart defects, mainly valvar pulmonary stenosis, sternal deformity and cryptorchidism in males. The PTPN1
Publicado em: 2006
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2. 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"
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 misse
Publicado em: 2005