Severe developmental delay and complete agenesis of corpus callosum in a Noonan syndrome patient with SOS1 mutation.
Division of Child Neurology, University of Arkansas for Medical Sciences, 1 Children's Way, Little Rock, AR, 72202, USA. dsamanta@uams.edu.
Debopam
D
Samanta
D061085:Agenesis of Corpus Callosum / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation; D009634:Noonan Syndrome / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D020837:SOS1 Protein / Q000235:genetics*
D020837:SOS1 Protein