Molecular and environmental characterization of Noonan syndrome in Morocco reveals a significant association with consanguinity and advanced parental age

Molecular and environmental characterization of Noonan syndrome in Morocco reveals a significant association with consanguinity and advanced parental age

Abstract Background Noonan syndrome (NS) is one of the most common RASopathies, with an autosomal dominant inheritance. This disorder is caused by a range of genes belonging to the RAS-MAP kinase (rat sarcoma viral oncogene homolog/mitogen-activated protein kinases) pathway, with PTPN11 (protein-tyr...

Full description

Bibliographic Details
Main Authors: Ihssane El Bouchikhi, Laila Bouguenouch, Fatima Zohra Moufid, Imane Samri, Fatima Abdouss, Moulay Abdelilah Melhouf, Mohammed Iraqui Houssaini, Khadija Belhassan, Samir Atmani, Karim Ouldim
Format: Article
Language:English
Published: SpringerOpen 2020-02-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Noonan syndrome (NS)
PTPN11 mutations
Pathogenic effect prediction
Mutation rate
Consanguinity
Paternal age
Online Access:http://link.springer.com/article/10.1186/s43042-020-0047-9

Internet

http://link.springer.com/article/10.1186/s43042-020-0047-9

Similar Items