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Clinical Genetics,
Jul 2025
DOI: 10.1111/cge.14767
Biallelic Variants in TMEM17 Cause Meckel‐Gruber Syndrome Within the Ciliopathy Spectrum
Pardo, Luba M. ;
Martini, Javier ;
Zonic, Emir ;
Almeida, Lígia S. ;
Iqbal, Maria ;
Sadagopan, Mukunth ;
Reyes, Alejandra P. ;
León, Nayla Y. ;
Musambil, Mohthash ;
Alfadhel, Majid ;
Dar, Farhan Javed ;
Tahir, Fadwah ;
Alsulmi, Eman S. ;
Qahtani, Nourah Al ;
Taifi, Hatoon Ahmed Al ;
Hamad, Mohammad Al ;
Alhaddad, Bader ;
Almubayedh, Sondos ;
AlAbdi, Lama ;
Alkuraya, Fowzan S. ;
Tabarki, Brahim ;
Tawhari, Amal ;
Alhashem, Amal ;
Bauer, Peter ;
Bertoli‐Avella, Aida M.
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