A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

• Egile Nagusiak: Sibtain Afzal (Egilea), Khushnooda Ramzan (Egilea), Sajjad Ullah (Egilea), Salma M. Wakil (Egilea), Arshad Jamal (Egilea), Sulman Basit (Egilea), Ahmed Bilal Waqar (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2020-01-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Abstract Background X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales on different parts of the body surface. It almost exclusively affects males and the estimated prevalence ranges from 1:2000-6000...