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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.
Apetrei A, Molin A, Gruchy N, Godin M, Bracquemart C, Resbeut A, Rey G, Nadeau G, Richard N. Apetrei A, et al. Among authors: bracquemart c. Bone Rep. 2021 Apr 23;14:101073. doi: 10.1016/j.bonr.2021.101073. eCollection 2021 Jun. Bone Rep. 2021. PMID: 33997150 Free PMC article.
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.
Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M, Vikkula M. Revencu N, et al. Among authors: bracquemart c. Orphanet J Rare Dis. 2024 May 22;19(1):213. doi: 10.1186/s13023-024-03196-9. Orphanet J Rare Dis. 2024. PMID: 38778413 Free PMC article.