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

Autor: Ihssane El Bouchikhi, Laila Bouguenouch, Fatima Zohra Moufid, Imane Samri, Fatima Abdouss, Moulay Abdelilah Melhouf, Mohammed Iraqui Houssaini, Khadija Belhassan, Samir Atmani, Karim Ouldim

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-9 (2020)

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

Externí odkaz: https://doaj.org/article/8c81a1981aa24cda858da711a34b2f71

Retraction: Molecular Diagnosis of Primary Hyperoxaluria Type 1 and Distal Renal Tubular Acidosis in Moroccan Patients With Nephrolithiasis and/or Nephrocalcinosis.

Autor: Fatima A; Biomedical and Translational Research Laboratory, Faculty of Medicine and Pharmacy, Sidi Mohamed Ben Abdellah University, Fez, MAR., Mohamed A; Medical Genetics and Onco-genetics Laboratory, Central Laboratory of Medical Analysis, Hospital University Hassan II, Fez, MAR., Moustapha H; Pediatric Department, Mother and Child Hospital, Hospital University Hassan II, Fez, MAR., Karim O; Medical Genetics and Onco-genetics Laboratory, Central Laboratory of Medical Analysis, Hospital University Hassan II, Fez, MAR.

Publikováno v: Cureus [Cureus] 2022 Oct 10; Vol. 14 (10), pp. r62. Date of Electronic Publication: 2022 Oct 10 (Print Publication: 2022).