Article
Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation.
The British journal of dermatology - 1 Mar 2010
Klaassens M, Blom E W, Schrander J J P, Ris-Stalpers C, Nieuwenhuijzen Kruseman A C, van Steensel M A M, Schrander-Stumpel C T R M
Abstract excerpt
Albright hereditary osteodystrophy (AHO) is a syndrome of short stature, obesity, brachydactyly and subcutaneous calcifications with pseudohypoparathyroidism (PHP; leading to hypocalcaemia, hyperphosphataemia and elevated levels of parathyroid hormone, PTH). It was first described over 60 years ago. Since then, much has been learned about the aetiology of AHO which has been shown to be caused by heterozygous...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.