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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Bibliografski detalji
Izdano u:Ann Clin Transl Neurol
Glavni autori: 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
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2016
Teme:
Research Articles
Online pristup: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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