Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate

Noonan syndrome is a common autosomal dominant disorder characterized by short stature, congenital heart disease and facial dysmorphia with an incidence of 1/1000 to 2500 live births. Up to now, several genes have been proven to be involved in the disturbance of the transduction signal through the R...

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Detalles Bibliográficos
Autores principales: El Bouchikhi, Ihssane, Belhassan, Khadija, Moufid, Fatima Zohra, Iraqui Houssaini, Mohammed, Bouguenouch, Laila, Samri, Imane, Atmani, Samir, Ouldim, Karim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2016
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372459/
https://www.ncbi.nlm.nih.gov/pubmed/30805484
http://dx.doi.org/10.1016/j.ijpam.2016.06.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372459/
https://www.ncbi.nlm.nih.gov/pubmed/30805484
http://dx.doi.org/10.1016/j.ijpam.2016.06.003

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