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Keywords: HMG domain
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Journal Articles
A Novel Mutation in SOX2 Causes Hypogonadotropic Hypogonadism with Mild Ocular Malformation
Available to PurchaseMasaki 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.
Published Online: 18 January 2014
... 04 2013 21 08 2013 18 1 2014 SOX2 Hypogonadotropic hypogonadism HMG domain Targeted next-generation sequencing Heterozygous mutations in SOX2 were first reported in patients with bilateral anophthalmia or severe microphthalmia who had additional abnormalities, including...
