Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Fatima AlabdulrazzaqTalal AlanziHaya H Al-BaloolAlice GardhamEmma WakelingHarry G LeitchMoeenaldeen AlSayedMaha AbdulrahimAbdulaziz AladwaniAntonio RomitoKapil KampeSacha FerdinandusseAshraf H AboelanineAmira AbdullahAmal AlwadaniLaila BastakiFrederic M VazAida Maria Bertoli-AvellaDana MarafiPublished in: Molecular genetics & genomic medicine (2023)
Our study expands the allelic spectrum of ELOVL4-related ISQMR. The detection of the same exonic deletion in two unrelated Saudi family from same tribe suggests a tribal founder mutation.