Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

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...

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Bibliografiske detaljer
Udgivet i:Ann Clin Transl Neurol
Main Authors: Saitsu, Hirotomo, Sonoda, Masaki, Higashijima, Takefumi, Shirozu, Hiroshi, Masuda, Hiroshi, Tohyama, Jun, Kato, Mitsuhiro, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Kameyama, Shigeki, Matsumoto, Naomichi
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2016
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Research Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4863748/
https://ncbi.nlm.nih.gov/pubmed/27231705
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.300
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