Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series

Oh, J. K., Vargas Del Valle, J. G., Lima de Carvalho, J. R., Sun, Y. J., Levi, S. R., Ryu, J., Yang, J., Nagasaki, T., Emanuelli, A., Rasool, N., Allikmets, R., Sparrow, J. R., Izquierdo, N. J., Duncan, J. L., Mahajan, V. B., & Tsang, S. H. (2022). Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series. Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-022-02295-9
Authors:
Jin Kyun Oh
José G. Vargas Del Valle
Jose Ronaldo Lima de Carvalho
Young Joo Sun
Sarah R. Levi
Joseph Ryu
Jing Yang
Takayuki Nagasaki
Andres Emanuelli
Nailyn Rasool
Rando Allikmets
Janet R. Sparrow
Natalio J. Izquierdo
Jacque L. Duncan
Vinit B. Mahajan
Stephen H. Tsang
Affiliated Authors:
Jin Kyun Oh
Jose Ronaldo Lima de Carvalho
Sarah R. Levi
Joseph Ryu
Takayuki Nagasaki
Rando Allikmets
Janet R. Sparrow
Stephen H. Tsang
Author Keywords:
ttll5
inherited retinal dystrophy
retinitis pigmentosa
cone-rod dystrophy
cone dystrophy
autosomal recessive
cone–rod dystrophy
Publication Type:
Article
Unique ID:
10.1186/s13023-022-02295-9
PMID:
Publication Date:
Data Source:
Scopus

Record Created: