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

Author:

Dateki Sumito12,Fukami Maki1,Sato Naoko1,Muroya Kouji3,Adachi Masanori3,Ogata Tsutomu1

Affiliation:

1. Department of Endocrinology and Metabolism (S.D., M.F., N.S., T.O.), National Research Institute for Child Health and Development, Tokyo 157-8535, Japan

2. Department of Pediatrics (S.D.), Nagasaki University Graduate School of Biomedical Sciences, Nagasaki 852-8501

3. Division of Endocrinology and Metabolism (K.M., M.A.), Kanagawa Children’s Medical Center, Yokohama 232-8555, Japan

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

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