Musculoskeletal phenotype in two unrelated individuals with a recurrent nonsense variant in SGMS2
Marie‐Eve Robinson, Ghalib Bardai, Louis‐Nicolas Veilleux, Francis H. Glorieux, Frank Rauch
Topics & Concepts
Bone mineralMedicineProbandOsteoporosisInternal medicineNonsense mutationPhenotypeEndocrinologyGeneticsBiologyMutationGeneMissense mutationConnective tissue disorders researchBone health and treatmentsDermatological and Skeletal Disorders