| Albright hereditary osteodystrophy. | |
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MedLine Citation:
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PMID: 20738794 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Albright hereditary osteodystrophy with pseudohypoparathyroidism is due to maternal loss-of-function mutations in the GNAS gene. Its typical clinical features encompass obesity, a round face and a short neck, osteoma of the skin, endocrinological abnormalities, and psychomotoric retardation. Here we present a 10-month-old Tunisian boy with a classical course of this rare disease. |
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Authors:
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Karola Stieler; Dirk Schnabel; Saman Atugoda; Wolfram Sterry; Ulrike Blume-Peytavi |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Pediatric dermatology Volume: 28 ISSN: 1525-1470 ISO Abbreviation: Pediatr Dermatol Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-04-20 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8406799 Medline TA: Pediatr Dermatol Country: United States |
Other Details:
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Languages: eng Pagination: 135-7 Citation Subset: IM |
Copyright Information:
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© 2010 Wiley Periodicals, Inc. |
Affiliation:
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Charité- University Medicine Berlin, Department of Dermatology and Allergy, Clinical Research Center for Hair and Skin Science (CRC), Charitéplatz, Berlin, Germany Charité- University Medicine Berlin, Otto-Heubner-Centrum für Kinder- und Jugendmedizin, Department of Pediatric Endocrinology & Diabetes, Augustenburger Platz, Berlin, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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