Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Chondrodysplasia of Blomstrand type is a severe autosomal recessiv disorder caused by inactivating mutations of the PTHR1 gene. Patients die soon after birth and exhibit severe skeletal abnormalities.
| 1. |
Blomstrand S et al. (1985) A case of lethal congenital dwarfism with accelerated skeletal maturation. 
|
| 2. |
Loshkajian A et al. (1997) Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.
|
| 3. |
Jobert AS et al. (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.
|
| 4. |
Zhang P et al. (1998) A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.
|
| 5. |
Hoogendam J et al. (2007) Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.
|
| 6. |
Wysolmerski JJ et al. (2001) Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction.
|
| 7. |
Young ID et al. (1993) A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?
|
| 8. |
den Hollander NS et al. (1997) First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia.
|
| 9. |
Oostra RJ et al. (2000) Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity.
|
| 10. |
OMIM.ORG article Omim 215045
|
 |
Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
