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

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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Bibliographic Details
Main Authors: Andreea Apetrei, Arnaud Molin, Nicolas Gruchy, Manon Godin, Claire Bracquemart, Antoine Resbeut, Gaëlle Rey, Gwenaël Nadeau, Nicolas Richard
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Bone Reports
Subjects:
GNAS
Synonymous
PHP1A
PPHP
IPPSD2
Pseudohypoparathyroidism
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187221003284

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http://www.sciencedirect.com/science/article/pii/S2352187221003284

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