A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report
Crossref DOI link: https://doi.org/10.1186/s13256-015-0732-3
Published Online: 2015-11-05
Published Print: 2015-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Chafai-Elalaoui, Siham
Chalon, Matthias
Elkhartoufi, Nadia
Kriouele, Yamna
Mansouri, Maria
AttiƩ-Bitach, Tania
Sefiani, Abdelaziz
Baala, Lekbir
License valid from 2015-11-05