Leslie E W LaConte Vrushali Chavan Stephanie DeLuca Karol Rubin Jessica Malc Susan Berry C Gail Summers Konark Mukherjee
10.1002/ajmg.a.60687
Am J Med Genet A
2019 Jan;179(1):94-103.
cask micpch optic nerve atrophy optic nerve hypoplasia retinal dystrophy
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/30549415/
Atrophy / genetics Guanylate Kinases / genetics Microcephaly / genetics Retinal Dystrophies / genetics
Atrophy / genetics Guanylate Kinases / genetics Microcephaly / genetics Retinal Dystrophies / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adaptor Proteins, Signal Transducing / genetics Atrophy / diagnostic imaging Atrophy / physiopathology Child Exome Sequencing Female Guanylate Kinases / chemistry HEK293 Cells Heterozygote Humans Loss of Function Mutation / genetics Microcephaly / diagnostic imaging Microcephaly / physiopathology Molecular Dynamics Simulation Mutation, Missense / genetics Nerve Tissue Proteins / genetics Optic Nerve / physiopathology Photoreceptor Cells / pathology Protein Folding Retinal Dystrophies / diagnostic imaging Retinal Dystrophies / physiopathology Retinal Ganglion Cells / pathology APBA1 protein, human Adaptor Proteins, Signal Transducing Nerve Tissue Proteins CASK kinases Guanylate Kinases
PMC6347510
30549415
An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy
2019