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Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia.
Demirbilek, Huseyin; Tahir, Sophia; Baran, Riza Taner; Sherif, Maha; Shah, Pratik; Ozbek, Mehmet Nuri; Hatipoglu, Nebahat; Baran, Ahmet; Arya, Ved Bhushan; Hussain, Khalid.
Affiliation
  • Demirbilek H; Developmental Endocrinology Research Group (H.D., S.T., M.S., P.S., V.B.A., K.H.), Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, WC1N 1EH London, United Kingdom; Department of Paediatric Endocrinology (H.D., P.S., V.B.A., K.H.), Great Ormond Street Hospital for Children, NHS Foundation Trust, WC1N 3JH London, United Kingdom; Department of Paediatric Endocrinology (H.D., R.T.B., M.N.O.) and Department of Radiology (N.H., A.B.), Diyarbakir Children's S
J Clin Endocrinol Metab ; 99(12): E2730-4, 2014 Dec.
Article in En | MEDLINE | ID: mdl-25226297
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Pituitary Hormone-Regulating Hormone / Receptors, Neuropeptide / Human Growth Hormone / Mutation, Missense / Hypoglycemia Type of study: Prognostic_studies Limits: Female / Humans / Infant / Male / Pregnancy Language: En Journal: J Clin Endocrinol Metab Year: 2014 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, Pituitary Hormone-Regulating Hormone / Receptors, Neuropeptide / Human Growth Hormone / Mutation, Missense / Hypoglycemia Type of study: Prognostic_studies Limits: Female / Humans / Infant / Male / Pregnancy Language: En Journal: J Clin Endocrinol Metab Year: 2014 Document type: Article