Uncombable Hair Syndrome Due to Maternal Uniparental Disomy of Chromosome 1

    Hanna Breet, Yvonne J. Vos, Trijnie Dijkhuizen … Peter C. van den Akker
    Studysummary This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
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    Research cited in this study 1

    1. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016

    Related research 1

    1. Uncombable Hair Syndrome Due to Maternal Uniparental Disomy of Chromosome 1 American journal of medical genetics. Part A · 2022