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Keywords: SOX2
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Journal Articles

A Novel Mutation in SOX2 Causes Hypogonadotropic Hypogonadism with Mild Ocular Malformation

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Subject Area:
Endocrinology , Women's and Children's Health
Masaki Takagi, Satoshi Narumi, Yumi Asakura, Koji Muroya, Yukihiro Hasegawa, Masanori Adachi, Tomonobu Hasegawa
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 81 (2): 133–138.
https://doi.org/10.1159/000355279
Published Online: 18 January 2014
...Masaki Takagi; Satoshi Narumi; Yumi Asakura; Koji Muroya; Yukihiro Hasegawa; Masanori Adachi; Tomonobu Hasegawa Background: Heterozygous SOX2 mutations have been reported to cause isolated hypogonadotropic hypogonadism (HH) in addition to ocular and brain abnormalities. Objective: We report a novel...
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Journal Articles

Septo-Optic Dysplasia – Novel Insights into the Aetiology

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Subject Area:
Endocrinology , Women's and Children's Health
Daniel Kelberman, Mehul Tulsidas Dattani
Journal: Hormone Research in Paediatrics
Hormone Research (2008) 69 (5): 257–265.
https://doi.org/10.1159/000114856
Published Online: 06 February 2008
... aetiologies have been suggested to account for the pathogenesis of the condition. However, a number of familial cases have been described and the identification of mutations in key developmental genes including HESX1 , SOX2 and SOX3 in patients with SOD and associated phenotypes suggests that a genetic...
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