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Article

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.

BMC medical genetics - 31 Jan 2020

Afzal Sibtain, Ramzan Khushnooda, Ullah Sajjad, Wakil Salma M, Jamal Arshad, Basit Sulman, Waqar Ahmed Bilal

Abstract excerpt

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 in males worldwide. Extracutaneous manifestations are frequent including corneal opacities, cryptorchidism, neuropsychiatric...

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Identifiers

PMID: 32005174
DOI: 10.1186/s12881-020-0964-y
PMCID: PMC6995215

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