Identification and characterisation of a novel constitutional PIK3CA mutation in a child lacking the typical segmental overgrowth of “PIK3CA-Related Overgrowth Spectrum” (PROS)

Activating somatic PIK3CA mutations underlie a growing heterogeneous spectrum of segmental overgrowth disorders. We report the identification and evaluation of a novel de novo constitutional PIK3CA mutation (NM_006218.2:c.335T>A, p.Ile112Asn) in a child with congenital megalencephaly and macrosom...

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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Mutat
Auteurs principaux: Di Donato, Nataliya, Rump, Andreas, Mirzaa, Ghayda M., Alcantara, Diana, Oliver, Antony, Schrock, Evelin, Dobyns, William B., O’Driscoll, Mark
Format: Artigo
Langue:Inglês
Publié: 2015
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4752430/
https://ncbi.nlm.nih.gov/pubmed/26593112
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22933
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