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Albright Hereditary Osteodystrophy

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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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Document Type: Research Article

Affiliations: 1: Charité– University Medicine Berlin, Department of Dermatology and Allergy, Clinical Research Center for Hair and Skin Science (CRC), Charitéplatz, Berlin, Germany 2: Charité– University Medicine Berlin, Otto-Heubner-Centrum für Kinder- und Jugendmedizin, Department of Pediatric Endocrinology & Diabetes, Augustenburger Platz, Berlin, Germany

Publication date: March 1, 2011

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