Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

Megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth syndrome that is diagnosed by clinical criteria. Recently, somatic and germline variants in genes that are involved in the PI3K-AKT pathway (AKT3, PIK3R2 and PIK3CA) have been described to be associated with MCAP and/or other rel...

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Dettagli Bibliografici
Pubblicato in:Eur J Hum Genet
Autori principali: Döcker, Dennis, Schubach, Max, Menzel, Moritz, Spaich, Christiane, Gabriel, Heinz-Dieter, Zenker, Martin, Bartholdi, Deborah, Biskup, Saskia
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2015
Soggetti:
Short Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4326712/
https://ncbi.nlm.nih.gov/pubmed/24939587
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.118
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