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Albright's hereditary osteodystrophy.

Seema Kapoor·Siddhartha Gogia·Ritu Paul·Sharmila Banerjee
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Abstract

Albright's hereditary osteodystrophy is a rare inherited metabolic disorder characterized by a typical phenotype. It may be associated with or without resistance to parathyroid hormone (pseudohypoparathyroidism). Both forms may co-exist in the same family. Pseudohypoparathyroidism Type 1 and Pseudo-pseudohypoparathyroidism occur as a consequence of reduced erythrocyte membrane coupled with Gs alpha activity. We report here the variable inheritance of hormone resistance in the presence of characteristic phenotype and reduced Gs alpha activity in the same family.

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ChildFemaleFibrous Dysplasia, PolyostoticGTP-Binding Protein alpha Subunits, GsGenetic Diseases, InbornHumansPseudohypoparathyroidismPseudopseudohypoparathyroidismCase ReportsJournal Article

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Seema Kapoor, Siddhartha Gogia, Ritu Paul, Sharmila Banerjee. 2006. Albright's hereditary osteodystrophy.. https://doi.org/10.1007/bf02820210

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