A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of bardet-biedl or McKusick-Kaufman syndrome

John D Hulleman, Annie Nguyen, V. L. Ramprasad, Sakthivel Murugan, Ravi Gupta, Avinash Mahindrakar, Ravi Angara, Chandrasekhar Sankurathri, Venkateswara Mootha

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Medicine & Life Sciences