Condition: Digitorenocerebral Syndrome
rs201257588 in
TBC1D24 gene and
Digitorenocerebral Syndrome
PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.
PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
PMID 25769375 2015 Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
PMID 28428906 2017 TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
PMID 28292732 2017 Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.