Retinitis pigmentosa with bilateral irido-fundal coloboma

por Daggula, Devi Bharathi, Adusumilli, Hima Bindu, Penmetsa, Krishna Chaitanya, Nekkanti, Venkata Bindu, Mahindrakar, Avinash
Publicado 2020

A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa

por Woodard, DaNae R., Xing, Chao, Ganne, Pratyusha, Liang, Hanquan, Mahindrakar, Avinash, Sankurathri, Chandrasekhar, Hulleman, John D., Mootha, V. Vinod
Publicado 2021

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

por Hulleman, John D., Nguyen, Annie, Ramprasad, V.L., Murugan, Sakthivel, Gupta, Ravi, Mahindrakar, Avinash, Angara, Ravi, Sankurathri, Chandrasekhar, Mootha, V. Vinod
Publicado 2016