A novel synonymous variant in exon 1 of

GNAS IPPSD2 PHP1A PPHP Pseudohypoparathyroidism Synonymous

Journal

Bone reports
ISSN: 2352-1872
Titre abrégé: Bone Rep
Pays: United States
ID NLM: 101646176

Informations de publication

Date de publication:
Jun 2021
Historique:
received: 15 02 2021
revised: 17 04 2021
accepted: 20 04 2021
entrez: 17 5 2021
pubmed: 18 5 2021
medline: 18 5 2021
Statut: epublish

Résumé

Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) (Inactivating PTH/PTHrP Signaling Disorders type 2, IPPSD2) are two rare autosomal disorders caused by loss-of-function mutations on either maternal or paternal allele, respectively, in the imprinted We investigated a synonymous

Identifiants

DOI: 10.1016/j.bonr.2021.101073 PMID: 33997150 PMC: PMC8100090
pubmed: 33997150
doi: 10.1016/j.bonr.2021.101073
pii: S2352-1872(21)00328-4
pmc: PMC8100090
doi:

Types de publication

Case Reports

Langues

eng

Pagination

101073

Informations de copyright

© 2021 Centre Hospitalier Universitaire de Caen. Published by Elsevier Inc.

Déclaration de conflit d'intérêts

The authors declare no conflict of interest.

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Auteurs

Andreea Apetrei (A)

Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.

Arnaud Molin (A)

Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.

Nicolas Gruchy (N)

Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.

Manon Godin (M)

Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.

Claire Bracquemart (C)

Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.

Antoine Resbeut (A)

Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.

Gaëlle Rey (G)

Metropole Savoie Hospital Center, Genetics Department, Chambéry, France.

Gwenaël Nadeau (G)

Metropole Savoie Hospital Center, Genetics Department, Chambéry, France.

Nicolas Richard (N)

Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.

Classifications MeSH