Severe developmental delay and complete agenesis of corpus callosum in a Noonan syndrome patient with SOS1 mutation
Acta Neurol Belg
.
2016 Jun;116(2):223-4.
doi: 10.1007/s13760-015-0526-9.
Epub 2015 Aug 18.
Author
Debopam Samanta
1
Affiliation
1
Division of Child Neurology, University of Arkansas for Medical Sciences, 1 Children's Way, Little Rock, AR, 72202, USA. dsamanta@uams.edu.
PMID:
26280111
DOI:
10.1007/s13760-015-0526-9
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Agenesis of Corpus Callosum / genetics*
Developmental Disabilities / genetics*
Female
Humans
Infant
Mutation*
Noonan Syndrome / genetics*
Noonan Syndrome / pathology
Polymerase Chain Reaction
SOS1 Protein / genetics*
Substances
SOS1 Protein