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

INTRODUCTION: 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 GNA...

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Detalles Bibliográficos
Autores principales: Apetrei, Andreea, Molin, Arnaud, Gruchy, Nicolas, Godin, Manon, Bracquemart, Claire, Resbeut, Antoine, Rey, Gaëlle, Nadeau, Gwenaël, Richard, Nicolas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100090/
https://www.ncbi.nlm.nih.gov/pubmed/33997150
http://dx.doi.org/10.1016/j.bonr.2021.101073

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100090/
https://www.ncbi.nlm.nih.gov/pubmed/33997150
http://dx.doi.org/10.1016/j.bonr.2021.101073

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