An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
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A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
P2860
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
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2015 nî lūn-bûn
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An attenuated phenotype of Cos ...... ommon functional consequences.
@en
An attenuated phenotype of Cos ...... dividuals with a HRAS c.179G>A
@nl
type
label
An attenuated phenotype of Cos ...... ommon functional consequences.
@en
An attenuated phenotype of Cos ...... dividuals with a HRAS c.179G>A
@nl
prefLabel
An attenuated phenotype of Cos ...... ommon functional consequences.
@en
An attenuated phenotype of Cos ...... dividuals with a HRAS c.179G>A
@nl
P2093
P2860
P356
P1476
An attenuated phenotype of Cos ...... ommon functional consequences.
@en
P2093
Bridget Russo
David A Stevenson
David H Viskochil
Deborah L Stabley
Gail E Graham
Georg Rosenberger
Heather Hanson
Karen W Gripp
Katia Sol-Church
Laura C Baker
P2860
P304
P356
10.1002/AJMG.A.37128
P407
P577
2015-04-25T00:00:00Z