Fahr syndrome discovered in adulthood revealing a rare GNAS mutation in pseudohypoparathyroidism type 1a in a Tunisian family

Pseudohypoparathyroidism (PHP) indicates a rare heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biologic activity of PTH. One of its most common types is PHP‐1a. In this report, we...

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Detalles Bibliográficos
Autores principales: Debbabi, Wided, Khelifi, Dayssem, Kharrat, Issam, Samet, Slim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9109644/
https://www.ncbi.nlm.nih.gov/pubmed/35600030
http://dx.doi.org/10.1002/ccr3.5849
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author Debbabi, Wided
Khelifi, Dayssem
Kharrat, Issam
Samet, Slim
author_facet Debbabi, Wided
Khelifi, Dayssem
Kharrat, Issam
Samet, Slim
author_sort Debbabi, Wided
collection PubMed
description Pseudohypoparathyroidism (PHP) indicates a rare heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biologic activity of PTH. One of its most common types is PHP‐1a. In this report, we present a familial PHP‐1a and a novel mutation of the GNAS gene.
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spelling pubmed-91096442022-05-20 Fahr syndrome discovered in adulthood revealing a rare GNAS mutation in pseudohypoparathyroidism type 1a in a Tunisian family Debbabi, Wided Khelifi, Dayssem Kharrat, Issam Samet, Slim Clin Case Rep Case Reports Pseudohypoparathyroidism (PHP) indicates a rare heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biologic activity of PTH. One of its most common types is PHP‐1a. In this report, we present a familial PHP‐1a and a novel mutation of the GNAS gene. John Wiley and Sons Inc. 2022-05-16 /pmc/articles/PMC9109644/ /pubmed/35600030 http://dx.doi.org/10.1002/ccr3.5849 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Debbabi, Wided
Khelifi, Dayssem
Kharrat, Issam
Samet, Slim
Fahr syndrome discovered in adulthood revealing a rare GNAS mutation in pseudohypoparathyroidism type 1a in a Tunisian family
title Fahr syndrome discovered in adulthood revealing a rare GNAS mutation in pseudohypoparathyroidism type 1a in a Tunisian family
title_full Fahr syndrome discovered in adulthood revealing a rare GNAS mutation in pseudohypoparathyroidism type 1a in a Tunisian family
title_fullStr Fahr syndrome discovered in adulthood revealing a rare GNAS mutation in pseudohypoparathyroidism type 1a in a Tunisian family
title_full_unstemmed Fahr syndrome discovered in adulthood revealing a rare GNAS mutation in pseudohypoparathyroidism type 1a in a Tunisian family
title_short Fahr syndrome discovered in adulthood revealing a rare GNAS mutation in pseudohypoparathyroidism type 1a in a Tunisian family
title_sort fahr syndrome discovered in adulthood revealing a rare gnas mutation in pseudohypoparathyroidism type 1a in a tunisian family
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9109644/
https://www.ncbi.nlm.nih.gov/pubmed/35600030
http://dx.doi.org/10.1002/ccr3.5849
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