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Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency.
Kinjo, Kenichi; Nagasaki, Keisuke; Muroya, Koji; Suzuki, Erina; Ishiwata, Keisuke; Nakabayashi, Kazuhiko; Hattori, Atsushi; Nagao, Koji; Nozawa, Ryu-Suke; Obuse, Chikashi; Miyado, Kenji; Ogata, Tsutomu; Fukami, Maki; Miyado, Mami.
Affiliation
  • Kinjo K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Nagasaki K; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Muroya K; Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Suzuki E; Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Ishiwata K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Nakabayashi K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Hattori A; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Nagao K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Nozawa RS; Department of Advanced Pediatric Medicine, Tohoku University School of Medicine, Tokyo, Japan.
  • Obuse C; Department of Biological Sciences, Graduate School of Science, Osaka University, Osaka, Japan.
  • Miyado K; Department of Biological Sciences, Graduate School of Science, Osaka University, Osaka, Japan.
  • Ogata T; Division of Experimental Pathology, The Cancer Institute of JFCR, Tokyo, Japan.
  • Fukami M; Department of Biological Sciences, Graduate School of Science, Osaka University, Osaka, Japan.
  • Miyado M; Department of Reproductive Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Sci Rep ; 10(1): 10985, 2020 07 03.
Article in En | MEDLINE | ID: mdl-32620854

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomal Proteins, Non-Histone / DNA Methylation / Amino Acid Substitution / Hypogonadism / Hypopituitarism Type of study: Guideline / Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Male / Middle aged Language: En Journal: Sci Rep Year: 2020 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomal Proteins, Non-Histone / DNA Methylation / Amino Acid Substitution / Hypogonadism / Hypopituitarism Type of study: Guideline / Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Male / Middle aged Language: En Journal: Sci Rep Year: 2020 Document type: Article Affiliation country: Country of publication: