Comments on: A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient
Am J Med Genet A
.
2019 Dec;179(12):2514-2516.
doi: 10.1002/ajmg.a.61358.
Epub 2019 Sep 18.
Authors
Carleigh Studtmann
1
2
,
Leslie E W LaConte
1
,
Konark Mukherjee
1
Affiliations
1
Fralin Biomedical Research Institute, Roanoke, Virginia.
2
Graduate Program in Translational Biology, Medicine, and Health, Virginia Tech, Blacksburg, Virginia.
PMID:
31532018
DOI:
10.1002/ajmg.a.61358
No abstract available
Publication types
Letter
Research Support, N.I.H., Extramural
Comment
MeSH terms
Female
Humans
Nervous System Malformations*
Sequence Deletion
Spasms, Infantile / genetics*
Grants and funding
R01 EY024712/EY/NEI NIH HHS/United States