A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family - Archive ouverte HAL Accéder directement au contenu
Poster De Conférence Année : 2021

A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family

Fichier principal
Vignette du fichier
Apetrei_P13.013.B.pdf (512.42 Ko) Télécharger le fichier
Origine : Fichiers produits par l'(les) auteur(s)

Dates et versions

hal-04345679 , version 1 (14-12-2023)

Identifiants

  • HAL Id : hal-04345679 , version 1

Citer

Andreea Apetrei, Arnaud Molin, Nicolas Gruchy, Manon Godin, Claire Bracquemart, et al.. A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family. European Human Genetics Conference 2021, Aug 2021, Virtual conference, Austria. ⟨hal-04345679⟩
9 Consultations
5 Téléchargements

Partager

Gmail Facebook X LinkedIn More