نتایج جستجو برای: noonan syndrome
تعداد نتایج: 622056 فیلتر نتایج به سال:
Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical craniofacial dysmorphism, skeletal anomalies, congenital heart defects, and predisposition to malignant tumors. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene. To date, solid tumors, and particularly brain tumors and rhabdomyosarcomas, have been documente...
BACKGROUND/OBJECTIVES A short neck and low posterior hairline are characteristics of Noonan syndrome (NS) and are hallmarks of basilar invagination/impression. However, it is seldom that NS has been directly linked with this symptom. Thus, this study aimed to investigate basilar impression in NS subjects compared with control subjects and individuals exhibiting Turner Syndrome (TS). SUBJECTS/ME...
We describe a 7 year old girl whose features satisfy the diagnosis of cardiofaciocutaneous syndrome. Her ectodermal features consist of fine, sparse hair, thin, opalescent nails, finger tip pads, generalised pigmentation of the skin, but no hyperkeratosis. Skin pigmentation and finger tip pads have not been previously reported in this syndrome. Twenty-two cases of CFC have been described but th...
OBJECTIVES The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), ne...
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
INTRODUCTION AND OBJECTIVES LEOPARD syndrome is an autosomal dominant condition related to Noonan syndrome, although it occurs less frequently. The aim of this study was to characterize the clinical and molecular features of a large series of LEOPARD syndrome patients. METHODS We collected clinical data from 19 patients in 10 hospitals. Bidirectional sequencing analysis of PTPN11, RAF1, and B...
Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is genetically heterogeneous, being caused by germline mutations affecting various genes implicated in the RAS signaling network. This network transduces extracellular signals into intracellular biochemical and transcriptional responses controlling cell proliferation, differentiation, met...
Noonan syndrome (NS) was described by Noonan and Ehmke as a multi-system disorder, which is typically evident at birth. The incidence of this syndrome is estimated to be one per 2500 to one per 1000 and affects both genders. While the clinical manifestations of NS have been well documented, the oral manifestations have not been extensively discussed. The purpose of the present article is to (a)...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید