Publication: A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome
A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome
Date
Date
Date
Citations
Frey, T., Ivanovski, I., Bahr, A., Zweier, M., Laube, J., Luchsinger, I., Steindl, K., & Rauch, A. (2023). A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome. American Journal of Medical Genetics. Part A, 191, 2074–2082. https://doi.org/10.1002/ajmg.a.63240
Abstract
Abstract
Abstract
Costello syndrome is a clinically recognizable, severe neurodevelopmental disorder caused by heterozygous activating variants in HRAS. The vast majority of affected patients share recurring variants affecting HRAS codons 12 and 13 and a relatively uniform phenotype. Here, we report the unique and attenuated phenotype of six individuals of an extended family affected by the HRAS variant c.176C>T p.(Ala59Gly), which, to our knowledge, has never been reported as a germline variant in patients so far. HRAS Alanine 59 has been previously f
Metrics
Downloads
Views
Additional indexing
Creators (Authors)
Journal/Series Title
Journal/Series Title
Journal/Series Title
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Page end
Page end
Page end
Item Type
Item Type
Item Type
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Keywords
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
Additional Information
Additional Information
Additional Information
OA Status
OA Status
OA Status
Free Access at
Free Access at
Free Access at
Publisher DOI
Metrics
Downloads
Views
Citations
Frey, T., Ivanovski, I., Bahr, A., Zweier, M., Laube, J., Luchsinger, I., Steindl, K., & Rauch, A. (2023). A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome. American Journal of Medical Genetics. Part A, 191, 2074–2082. https://doi.org/10.1002/ajmg.a.63240
