Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum
- Luba M. Pardo
- , Javier Martini
- , Emir Zonic
- , Ligia S. Almeida
- , Maria Iqbal
- , Mukunth Sadagopan
- , Alejandra P. Reyes
- , Nayla Y. León
- , Mohthash Musambil
- , Majid Alfadhel
- , Farhan Javed Dar
- , Fadwah Tahir
- , Eman AlSulmi
- , Nourah Al Qahtani
- , Hatoon Ahmed Al Taifi
- , Mohammad Al Hamad
- , Bader Alhaddad
- , Sondos Almubayedh
- , Lama Alabdi
- , Fowzan S. Alkuraya
*Corresponding author for this work
- Centogene AG
- Thuriah Medical Center
- Ministry of National Guard Health Affairs
- King Saud bin Abdulaziz University for Health Sciences
- International Medical Center
- Umm Al-Qura University
- Imam Abdulrahman Bin Faisal University
- Lifera Omics
- King Faisal Specialist Hospital and Research Centre
- Prince Sultan Military Medical City
- King Fahad Specialist Hospital, Dammam
- Pomeranian Medical University in Szczecin
Research output: Contribution to journal › Article › peer-review