Somatic mutations in GLI 3 and OFD 1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

Abstract excerpt

OBJECTIVE: Hypothalamic hamartoma (HH) is a congenital anomalous brain tumor. Although most HHs are found without any other systemic features, HH is observed in syndromic disorders such as Pallister-Hall syndrome (PHS) and oral-facial-digital syndrome (OFD). Here, we explore the possible involvement of somatic mutations in HH. METHODS: We analyzed paired blood and hamartoma samples from 18 individuals, including...

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