Associated Papers
De novo retinoic acid receptor beta (RARB) variant associated with microphthalmia and dystonia.
Trieschmann G et al.
European Journal of Medical Genetics, 2023
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J et al.
Human Genetics, 2019
Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.
Nedelec B et al.
Human Genetics, 2019
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
Srour M et al.
American Journal of Human Genetics, 2013
Select a paper to view details