Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation

Germline loss‐of‐function GNAS mutations are associated with multiple phenotypes, depending on the parental origin of the mutant allele. Here, we describe an infantile lethal form of atypical pseudohypoparathyroidism type 1a or 1c with severe Albright's hereditary osteodystrophy phenotype, unde...

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Autores principales: Leclercq, Valérie, Benoit, Valérie, Lederer, Damien, Delaunoy, Melanie, Ruiz, Marcela, de Halleux, Claire, Robaux, Olivier, Wanty, Catherine, Maystadt, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186887/
https://www.ncbi.nlm.nih.gov/pubmed/30349702
http://dx.doi.org/10.1002/ccr3.1739
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author Leclercq, Valérie
Benoit, Valérie
Lederer, Damien
Delaunoy, Melanie
Ruiz, Marcela
de Halleux, Claire
Robaux, Olivier
Wanty, Catherine
Maystadt, Isabelle
author_facet Leclercq, Valérie
Benoit, Valérie
Lederer, Damien
Delaunoy, Melanie
Ruiz, Marcela
de Halleux, Claire
Robaux, Olivier
Wanty, Catherine
Maystadt, Isabelle
author_sort Leclercq, Valérie
collection PubMed
description Germline loss‐of‐function GNAS mutations are associated with multiple phenotypes, depending on the parental origin of the mutant allele. Here, we describe an infantile lethal form of atypical pseudohypoparathyroidism type 1a or 1c with severe Albright's hereditary osteodystrophy phenotype, underlying the extremely variable expressivity of this syndrome.
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spelling pubmed-61868872018-10-22 Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation Leclercq, Valérie Benoit, Valérie Lederer, Damien Delaunoy, Melanie Ruiz, Marcela de Halleux, Claire Robaux, Olivier Wanty, Catherine Maystadt, Isabelle Clin Case Rep Case Reports Germline loss‐of‐function GNAS mutations are associated with multiple phenotypes, depending on the parental origin of the mutant allele. Here, we describe an infantile lethal form of atypical pseudohypoparathyroidism type 1a or 1c with severe Albright's hereditary osteodystrophy phenotype, underlying the extremely variable expressivity of this syndrome. John Wiley and Sons Inc. 2018-08-16 /pmc/articles/PMC6186887/ /pubmed/30349702 http://dx.doi.org/10.1002/ccr3.1739 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://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
Leclercq, Valérie
Benoit, Valérie
Lederer, Damien
Delaunoy, Melanie
Ruiz, Marcela
de Halleux, Claire
Robaux, Olivier
Wanty, Catherine
Maystadt, Isabelle
Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation
title Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation
title_full Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation
title_fullStr Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation
title_full_unstemmed Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation
title_short Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation
title_sort case report: an infantile lethal form of albright hereditary osteodystrophy due to a gnas mutation
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186887/
https://www.ncbi.nlm.nih.gov/pubmed/30349702
http://dx.doi.org/10.1002/ccr3.1739
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