Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
rs878854401
in
TBL1XR1
gene and
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
PMID 25102098
2014 A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
PMID 23160955
2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
PMID 27133561
2016 Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
PMID 22495309
2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.