Associated Papers
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.
Gee JA et al.
Molecular Vision, 2015
A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.
Kawasaki S et al.
Molecular Vision, 2012
Select a paper to view details