Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant
Muns, Sofia M., Montalvo, Lorena A., Vargas Del Valle, Jose G., Martinez, Meliza, Oliver, Armando L., Izquierdo, Natalio J.
Published in American journal of ophthalmology case reports (01.12.2020)
Published in American journal of ophthalmology case reports (01.12.2020)
Get full text
Journal Article
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series
Oh, Jin Kyun, Vargas Del Valle, José G, Lima de Carvalho, Jr, Jose Ronaldo, Sun, Young Joo, Levi, Sarah R, Ryu, Joseph, Yang, Jing, Nagasaki, Takayuki, Emanuelli, Andres, Rasool, Nailyn, Allikmets, Rando, Sparrow, Janet R, Izquierdo, Natalio J, Duncan, Jacque L, Mahajan, Vinit B, Tsang, Stephen H
Published in Orphanet journal of rare diseases (01.04.2022)
Published in Orphanet journal of rare diseases (01.04.2022)
Get full text
Journal Article
Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant
Muns, Sofia M, Montalvo, Lorena A, Vargas Del Valle, Jose G, Martinez, Meliza, Oliver, Armando L, Izquierdo, Natalio J
Published in American journal of ophthalmology case reports (01.12.2020)
Published in American journal of ophthalmology case reports (01.12.2020)
Get full text
Report