Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan

    July 2016 in “ Genes ”
    Christeen Ramane J. Pedurupillay, Erlend Christoffer Sommer Landsend, Magnus Dehli Vigeland … Petter Strømme
    Studysummary This study identified specific genetic variants as the cause of visual impairment and non-syndromic alopecia in two brothers, reinforcing the link between PDE6H variants and achromatopsia and LPAR6 variants and alopecia.
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    Research cited in this study 2

    1. Congenital Hair Loss Disorders: Rare, But Not Too Rare The Journal of Dermatology · 2011
    2. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008