Image

    Syndactyly Type III and Hypotrichosis in Oculodentodigital Syndrome with GJA1 Mutation

    Tomoki Taki, Takuya Takeichi, Kazumitsu Sugiura, Masashi Akiyama
    Studysummary This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
    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 jidonline.org →
    Discuss this study in the Community →