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
January 2020
in “
BMC Medical Genetics
”
Studysummary In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
Read the full study on bmcmedgenet.biomedcentral.com →