Blomstrand-Chondrodysplasie
Blomstrand-Chondrodysplasie ist eine autosomal rezessive Erkrankung, die durch inaktivierende Mutationen im PTHR1-Gen hervorgerufen wird. Die Betroffenen sterben kurz nach der Geburt mit schweren Fehlbildungen des Skelettsystems.
Gliederung
Referenzen:
| 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 [^] |
