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

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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Bibliographic Details
Main Authors: Ihssane El Bouchikhi, Khadija Belhassan, Fatima Zohra Moufid, Mohammed Iraqui Houssaini, Laila Bouguenouch, Imane Samri, Samir Atmani, Karim Ouldim
Format: Article
Language:English
Published: Elsevier 2016-12-01
Series:International Journal of Pediatrics and Adolescent Medicine
Subjects:
Molecular etiology
MAP kinase signaling pathways
Mutation rate
Noonan syndrome
PTPN11
RAS family
Online Access:http://www.sciencedirect.com/science/article/pii/S2352646716300321

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http://www.sciencedirect.com/science/article/pii/S2352646716300321

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