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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Ann Clin Transl Neurol
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2016
Gaiak:
Research Articles
Sarrera elektronikoa: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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