Identification and Characterization of Bone-related Genetic Variants in Families

"After consenting, all subjects have to undergo the following procedures:~Up to 25 ml of blood will be withdrawn. If for any reason, the blood sample cannot be obtained, a swab will be applied to the inside of the cheek to obtain saliva.~A questionnaire will be used to collect information about individual A routine physical exam will be performed. The subject's medical record will be reviewed To well document some of the specific phenotypes and conditions, physicians might take photographs of the affected body area.~For secondary subjects (relatives or family members), normal examination and routine lab tests/ imagining will be done if needed as per the related standard care."