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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Enregistré dans:
Détails bibliographiques
Publié dans:Ann Clin Transl Neurol
Auteurs principaux: 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
Langue:Inglês
Publié: John Wiley and Sons Inc. 2016
Sujets:
Research Articles
Accès en ligne: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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