Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.

Journal: PloS one

Publication Year: 2021

Authors & Co-authors:  Mkaouar Rahma R Riahi Zied Z Charfeddine Cherine C Chelly Imen I Boudabbous Hela H Dallali Hamza H Bonnet Crystel C Hechmi Meriem M Bekri Soumeya S Zitouna Nadia N

Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing.

Journal: Gene

Publication Year: 2024

Authors & Co-authors:  Mezzi Nessrine N Zaouak Anissa A Mkaouar Rahma R Kacem Imen I Gouider Riadh R Fenniche Samy S Mrad Ridha R Abdelhak Sonia S Romdhane Lilia L