Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.
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- Human Genetics, 2018, v. 137, n. 3, p. 231, doi. 10.1007/s00439-018-1874-3
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- Article
Works matching AU LaConte, Leslie E. W.
Results: 6
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Comments on: A de novo in‐frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2514, doi. 10.1002/ajmg.a.61358
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- Article
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Cover Image, Volume 179A, Number 1, January 2019.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. i, doi. 10.1002/ajmg.a.61048
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- Article
4
An N‐terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 94, doi. 10.1002/ajmg.a.60687
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- Article
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Identification and Glycerol-Induced Correction of Misfolding Mutations in the X-Linked Mental Retardation Gene CASK.
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- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0088276
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- Article
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Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1426
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- Article