A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family

Chokri Boubaker (1) , Inès Hsairi-Guidara (2) , Christel Castro (1) , Ines Ayadi (2) , Amandine Boyer (3) , Emna Kerkeni (4) , Joël Courageot (1) , Imen Abid (2) , Rafaëlle Bernard (3) , Nathalie Bonello-Palot (3) , Fatma Kamoun (2) , Hassen Ben Cheikh (4) , Nicolas Levy (1, 3) , Chahnez Triki (2) , Valérie Delague (1)

1 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
2 Hedi Chaker University Hospital
3 Laboratoire de Génétique Moléculaire [Hôpital de la Timone - APHM]
4 Faculté de Médecine de Monastir [Tunisie]

Domains: Life Sciences [q-bio]; Genetics; Life Sciences [q-bio]; Life Sciences [q-bio]; Human health and pathology

Chokri Boubaker, Inès Hsairi-Guidara, Christel Castro, Ines Ayadi, Amandine Boyer, et al.. A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family. Annals of Human Genetics, 2012, 77 (4), pp.336-343. ⟨10.1111/ahg.12017⟩. ⟨hal-03147668⟩