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Article

PTEN somatic mutations contribute to spectrum of cerebral overgrowth.

Brain : a journal of neurology - 29 Nov 2021

Koboldt Daniel C, Miller Katherine E, Miller Anthony R, Bush Jocelyn M, McGrath Sean, Leraas Kristen, Crist Erin, Fair Summer, Schwind Wesley, Wijeratne Saranga, Fitch James, Leonard Jeffrey, Shaikhouni Ammar, Hester Mark E, Magrini Vincent, Ho Mai-Lan, Pierson Christopher R, Wilson Richard K, Ostendorf Adam P, Mardis Elaine R, Bedrosian Tracy A

Abstract excerpt

Phosphatase and tensin homologue (PTEN) regulates cell growth and survival through inhibition of the mammalian target of rapamycin (MTOR) signalling pathway. Germline genetic variation of PTEN is associated with autism, macrocephaly and PTEN hamartoma tumour syndromes. The effect of developmental PTEN somatic mutations on nervous system phenotypes is not well understood, although brain somatic mosaicism of MTOR...

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Identifiers

PMID: 34048549
DOI: 10.1093/brain/awab173
PMCID: PMC8634064

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