Fakhfakh F

Title : First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene - Felhi_2022_Int.J.Dev.Neurosci_82_736

Author(s) : Felhi R , Monastiri K , Ben Hamida H , Ammar M , Chioukh FZ , Tabarki B , Chouchen J , Fakhfakh F , Tlili A , Mkaouar-Rebai E

Ref : Int J Developmental Neuroscience , 82 :736 , 2022

Abstract :

PubMedSearch : Felhi_2022_Int.J.Dev.Neurosci_82_736

PubMedID: 35943861

Gene_locus related to this paper: human-SERAC1

Title : Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene - Louhichi_2019_Orphanet.J.Rare.Dis_14_112

Author(s) : Louhichi N , Bahloul E , Marrakchi S , Othman HB , Triki C , Aloulou K , Trabelsi L , Mahfouth N , Ayadi-Mnif Z , Keskes L , Fakhfakh F , Turki H

Ref : Orphanet J Rare Dis , 14 :112 , 2019

Abstract :

PubMedSearch : Louhichi_2019_Orphanet.J.Rare.Dis_14_112

PubMedID: 31118107

Gene_locus related to this paper: human-ABHD5

Fakhfakh F

References (2)

1. First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene - Felhi_2022_Int.J.Dev.Neurosci_82_736

2. Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene - Louhichi_2019_Orphanet.J.Rare.Dis_14_112