Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
Rahma Mkaouar(Tunis University), Médiha Trabelsi(Tunis University), Meriem Hechmi(University of Carthage), Ichraf Kraoua(National Institute of Neurology Mongi-Ben Hamida), Crystel Bonnet(Centre National de la Recherche Scientifique), Ridha Mrad(Tunis University), Nadia Zitouna(Institut Pasteur de Tunis), J. Marrakchi(Institut Pasteur de Tunis), Chérine Charfeddine(Tunis University), Hamza Dallali(Institut Pasteur de Tunis), Rym Kéfi(Institut Pasteur de Tunis), Sonia Abdelhak(Inserm), Ahlem Ben Hmid(Institut Pasteur de Tunis), Soumeya Bekri(Centre Hospitalier Universitaire de Nice), Olfa Messaoud(Broad Institute), Sami Bouchoucha(Institut Pasteur de Tunis), Christine Petit(Inserm), Néji Tebib(Hôpital La Rabta), Zied Riahi(Institut de la Vision), Fabrice Giraudet(Centre National de la Recherche Scientifique), Amel Tounsi, Hela Boudabbous(Hôpital La Rabta), Ilhem Turki Ben Youssef(Tunis University), Sonia Maâlej(Abderrahmane Mami Hospital), G. Besbes(Hôpital La Rabta), Lotfi Zekri(Institut Pasteur de Tunis), Imen Chelly(Hopital Universitaire Habib Bourguiba)
Cited by 5
Related Papers
KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness
|Cell|1999|868
Increased Adipose Tissue Expression of Hepcidin in Severe Obesity Is Independent From Diabetes and NASH
|Gastroenterology|2006|491
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes
|Proceedings of the National Academy of Sciences|2004|420
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
|European Journal of Human Genetics|2006|244