J. M. Alqahtani

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of inherited cornification disorders caused by defects in epidermal barrier formation. Mutations in CYP4F22 are an uncommon cause of ARCI and are associated with variable phenotypes including lamellar ichthyosis (LI) and congenital ichthyosiform...