Identification of the underlying genetic mechanisms in patients with skeletal dysplasias to improve diagnosis, genetic counseling and patient follow-up

Medical Doctor, PhD-student
Astrid Skov Midtiby
Department of Clinical Genetics

Project management

Project status	Open



Data collection dates
Start	01.12.2022
End	04.11.2027

Project in numbers

OPEN survey/clinical data
Expected # of participants
Included # of participants





Included participants with specimens
Specimens

Identification of the underlying genetic mechanisms in patients with skeletal dysplasias to improve diagnosis, genetic counseling and patient follow-up

Short summary

The aim of this study is to describe skeletal dysplasia in Denmark. We will identify patients, both children, adults and fetuses, with skeletal dysplasia and investigate the genetic mechanism causing their specific symptoms.

Collaborating researchers and departments

Department of Clinical Genetics, Rigshospitalet