A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report

Por Chafai-Elalaoui, Siham, Chalon, Matthias, Elkhartoufi, Nadia, Kriouele, Yamna, Mansouri, Maria, Attié-Bitach, Tania, Sefiani, Abdelaziz, Baala, Lekbir
Publicado no J Med Case Rep (2015)