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Paper Details

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.
Am J Hum Genet
11
2022
CG5022, FERM, FERM domain-containing protein 5, FRMD5, FRMD5 variants, Mendelian disease, abnormalities of eye, abnormalities of eye movement, ataxia, c, cell, cell adherens junctions, dFrmd, dFrmd LoF mutant, developmental delay, ezrin, four-point-one, glia, human, human FRMD5 reference, human FRMD5 reference (Ref) cDNA, humans, intellectual disability, moesin, neurological, neurons, phosphoinositides, radixin, seizures
Author NameAffiliation
Vernon R SuttonBaylor College of Medicine, USA Texas Children's Hospital
Megan Li
Pengfei LiuBaylor College of Medicine
Michael F WanglerBaylor College of Medicine, USA Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, USA Texas Children's Hospital
Hugo J BellenBaylor College of Medicine, USA Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital
Hugo J BellenBaylor College of Medicine, USA Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital
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