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Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet.
Atay, Zeynep; Bereket, Abdullah; Haliloglu, Belma; Abali, Saygin; Ozdogan, Tutku; Altuncu, Emel; Canaff, Lucie; Vilaça, Tatiane; Wong, Betty Y L; Cole, David E C; Hendy, Geoffrey N; Turan, Serap.
Affiliation
  • Atay Z; Department of Pediatric Endocrinology, Marmara University, Pendik, Istanbul 34899, Turkey. Electronic address: atay.zeynep@yahoo.com.
  • Bereket A; Department of Pediatric Endocrinology, Marmara University, Pendik, Istanbul 34899, Turkey.
  • Haliloglu B; Department of Pediatric Endocrinology, Marmara University, Pendik, Istanbul 34899, Turkey.
  • Abali S; Department of Pediatric Endocrinology, Marmara University, Pendik, Istanbul 34899, Turkey.
  • Ozdogan T; Department of Neonatology, Marmara University, Pendik, Istanbul 34899, Turkey.
  • Altuncu E; Department of Neonatology, Marmara University, Pendik, Istanbul 34899, Turkey.
  • Canaff L; Department of Medicine, Physiology and Human Genetics, McGill University, Montreal, Quebec H3A 0G4, Canada; Calcium Research Laboratory and Hormones and Cancer Research Unit, Royal Victoria Hospital, Montreal, Quebec H3A 1A1, Canada.
  • Vilaça T; Department of Medicine, Physiology and Human Genetics, McGill University, Montreal, Quebec H3A 0G4, Canada; Department of Medicine, Physiology and Human Genetics, McGill University, Montreal, Quebec H3A 0G4, Canada.
  • Wong BY; Departments of Laboratory Medicine and Pathobiology, Medicine, and Genetics, University of Toronto, Toronto, Ontario M5G IL5, Canada.
  • Cole DE; Departments of Laboratory Medicine and Pathobiology, Medicine, and Genetics, University of Toronto, Toronto, Ontario M5G IL5, Canada.
  • Hendy GN; Department of Medicine, Physiology and Human Genetics, McGill University, Montreal, Quebec H3A 0G4, Canada; Calcium Research Laboratory and Hormones and Cancer Research Unit, Royal Victoria Hospital, Montreal, Quebec H3A 1A1, Canada.
  • Turan S; Department of Pediatric Endocrinology, Marmara University, Pendik, Istanbul 34899, Turkey.
Bone ; 64: 102-7, 2014 Jul.
Article in En | MEDLINE | ID: mdl-24735972
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Calcium-Sensing / Homozygote / Hyperparathyroidism / Infant, Newborn, Diseases / Mutation / Naphthalenes Type of study: Prognostic_studies Limits: Female / Humans / Male / Newborn Language: En Journal: Bone Journal subject: METABOLISMO / ORTOPEDIA Year: 2014 Document type: Article Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Calcium-Sensing / Homozygote / Hyperparathyroidism / Infant, Newborn, Diseases / Mutation / Naphthalenes Type of study: Prognostic_studies Limits: Female / Humans / Male / Newborn Language: En Journal: Bone Journal subject: METABOLISMO / ORTOPEDIA Year: 2014 Document type: Article Country of publication: United States