Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability

    December 2015 in “ European Journal of Human Genetics ”
    Muhammad Ansar, Abid Jan, Suzanne M. Leal … Suzanne M. Leal
    Studysummary This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
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    Research cited in this study 1

    1. Conditional Epidermal Expression of TGFβ1 Blocks Neonatal Lethality but Causes a Reversible Hyperplasia and Alopecia Proceedings of the National Academy of Sciences · 2001