Article
[Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism.].
Anales de pediatria (Barcelona, Spain : 2003) - 1 Feb 2011
de Arriba Muñoz A, Labarta Aizpún J I, Dehesa E Mayayo, Calvo M T, Pérez de Nanclares G, Ferrández-Longás A
Abstract excerpt
Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine diseases characterised by hypocalcaemia, hyperphosphataemia and resistance to PTH. There are different forms of PHP. PHP-Ia is the most frequent form and shows multi-hormonal resistance, GNAS (Gs(α)) mutations and signs of Albri...
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