Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient

    Chen-Mei Liu, Pingjiao Chen, Qi Wang … Changxing Li
    Studysummary This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
    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 journals.lww.com →
    Discuss this study in the Community →

    Related research 1

    1. Follicular Ichthyosis: A Study of Four Patients with Congenital Follicular Hyperkeratosis British journal of dermatology/British journal of dermatology, Supplement · 1984