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The genetic basis of DOORS syndrome: an exome-sequencing study
(Elsevier, 2017)
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
(Lippincott Williams & Wilkins, 2016)
OBJECTIVE:
To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
METHODS:
We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, ...
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
(Lippincott Williams & Wilkins, 2016)
OBJECTIVE:
To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
METHODS:
We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, ...
The genetic basis of DOORS syndrome: an exome-sequencing study
(Elsevier, 2014)
Abstract
BACKGROUND:
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis of this ...