OTX2 Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using the IRBP, HESX1, and POU1F1 Promoters | Zendy

Sumito Dateki | Zendy; Maki Fukami | Zendy; Naoko Sato | Zendy; Koji Muroya | Zendy; Masanori Adachi | Zendy; Tsutomu Ogata | Zendy

Open Access

OTX2 Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using the IRBP, HESX1, and POU1F1 Promoters

Author(s) -

Sumito Dateki,

Maki Fukami,

Naoko Sato,

Koji Muroya,

Masanori Adachi,

Tsutomu Ogata

Publication year - 2008

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2008-0720

Subject(s) - endocrinology , transactivation , medicine , biology , frameshift mutation , short stature , anophthalmia , promoter , mutation , transcription factor , genetics , gene , gene expression , microphthalmia

OTX2 is a transcription factor gene essential for eye development. Although recent studies suggest the involvement of OTX2 in pituitary function, there is no report demonstrating a positive role of OTX2 in the pituitary function.

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