The other side of Turner's: Noonan's syndrome

Noonan Syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical face dysmorphology, and congenital heart defects. NS is a clinical diagnosis. Establishing the diagnosis can be very difficult, especially in adulthood. There is a great variability in expression, and the...

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Detalles Bibliográficos
Autores principales: Agarwal, Pankaj, Philip, Rajeev, Gutch, Manish, Gupta, K. K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784861/
https://www.ncbi.nlm.nih.gov/pubmed/24083159
http://dx.doi.org/10.4103/2230-8210.117197
Descripción
Sumario:Noonan Syndrome (NS) is an autosomal dominant disorder characterized by short stature, typical face dysmorphology, and congenital heart defects. NS is a clinical diagnosis. Establishing the diagnosis can be very difficult, especially in adulthood. There is a great variability in expression, and the phenotype becomes less pronounced with increasing age.

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