Article
Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2021
Marzin Pauline, Thierry Briac, Dancasius Andrea, Cavau Anne, Michot Caroline, Rondeau Sophie, Baujat Geneviève, Phan Gilles, Bonnière Maryse, Le Bourgeois Muriel, Khraiche Diala, Pejin Zagorka, Bonnet Damien, Delacourt Christophe, Cormier-Daire Valérie
Abstract excerpt
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 responsible for AD or GD, whereas recessive variants in the ADAMTSL2 gene are responsible for GD only. The aim of this study was to define the...
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