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

Projekt styring

Projekt status	Open



Data indsamlingsdatoer
Start	01.12.2022
Slut	04.11.2027

Projektet i tal

OPEN undersøgelse/kliniske data
Forventet # af deltagere
Inkluderet antal deltagere





Inkluderede deltagere med prøver
Prøver

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