Condition: Megalencephaly cutis marmorata telangiectatica congenita
rs397514605 in
AKT3 gene and
Megalencephaly cutis marmorata telangiectatica congenita
PMID 25416470 2015 Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.
PMID 28086757 2017 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
PMID 25523067 2015 Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.
PMID 23745724 2014 AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.
PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
rs104886003 in
PIK3CA gene and
Megalencephaly cutis marmorata telangiectatica congenita
PMID 26593112 2016 "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""."
PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
rs587776934 in
PIK3R2 gene and
Megalencephaly cutis marmorata telangiectatica congenita
PMID 24497998 2014 Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.
PMID 26520804 2015 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
PMID 28086757 2017 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.