Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases
Pauline Marzin, Briac Thierry, Andrea Dancasius, Anne Cavau, Caroline Michot, Sophie Rondeau, Geneviève Baujat, Gilles Phan, Maryse Bonnière, Muriel Le Bourgeois, Diala Khraiche, Zagorka Péjin, Damien Bonnet, Christophe Delacourt, Valérie Cormier‐Daire
Topics & Concepts
MedicineNatural historyGenotypeCardiorespiratory fitnessPediatricsRetrospective cohort studyInternal medicinePhenotypeDysplasiaDiseaseShort statureGeneticsGeneBiologyConnective tissue disorders researchGenomics and Rare DiseasesNeurogenetic and Muscular Disorders Research