CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus.
Apparently benign craniocervical signs in achondroplasia: “neurologic leftovers” identified through a retrospective dataset
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant
Diaphanospondylodysostosis and Ischiospinal dysostosis, Evidence for One Disorder With Variable Expression in a Patient Who Has Survived to Age 9 Years
