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Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V. Marzin P, et al. Genet Med. 2021 Feb;23(2):331-340. doi: 10.1038/s41436-020-00994-x. Epub 2020 Oct 21. Genet Med. 2021. PMID: 33082559 Free article.
PURPOSE: Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are characterized by short stature, short extremities, and progressive joint limitation. In GD, cardiorespiratory involvement can result in poor prognosis. Dominant variants in the FBN1 and LTBP3 genes are r …
PURPOSE: Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are characterized by short stature, short extremities, and progressive joi …
Novel mutations in geleophysic dysplasia type 1.
Porayette P, Fruitman D, Lauzon JL, Le Goff C, Cormier-Daire V, Sanders SP, Pinto-Rojas A, Perez-Atayde AR. Porayette P, et al. Pediatr Dev Pathol. 2014 May-Jun;17(3):209-16. doi: 10.2350/13-08-1370-CR.1. Epub 2013 Nov 19. Pediatr Dev Pathol. 2014. PMID: 24251637
This child with these 2 novel mutations also had an aggressive clinical course with early-onset progressive cardiac valvular disease....
This child with these 2 novel mutations also had an aggressive clinical course with early-onset progressive cardiac valvular disease. …