An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature

    Giulia Trippella, Paolo Lionetti, Sara Naldini … Stefano Stagi
    Studysummary This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
    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 ijponline.biomedcentral.com →
    Discuss this study in the Community →