Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.

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Title: Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.
Authors: Takatani R; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Molinaro A; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Grigelioniene G; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Tafaj O; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Watanabe T; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Reyes M; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Sharma A; Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Singhal V; Pediatric Endocrinology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK., Linglart A; Paediatric Endocrinology and Diabetology, French National Reference Centre for Rare Disorders of Mineral Metabolism, AP-HP Hôpital Bicêtre Paris Sud, le Kremlin-Bicêtre, France.; Faculté de Médecine, Université Paris Sud, le Kremlin-Bicêtre, France., Jüppner H; Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Source: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2016 Apr; Vol. 31 (4), pp. 796-805. Date of Electronic Publication: 2015 Nov 14.
Publication Type: Clinical Trial; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1523-4681
DOI:10.1002/jbmr.2731