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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Dades bibliogràfiques
Publicat a:Ann Clin Transl Neurol
Autors principals: 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
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2016
Matèries:
Research Articles
Accés en línia: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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