Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia.

Hams S Al-ZahraniSaeed Al-TalaHussein S A MohamoudBandar A Al-ShehriSaeed Al-FadhelAli Al-QurashiAhmad Al-BishriJumana Y Al-AamaChangsoo KangRegina C BetzMusharraf Jelani

Published in: Congenital anomalies (2018)

Keyphrases

saudi arabia
copy number
genome wide
early onset
genome wide identification
dna methylation
gene expression
genome wide analysis