Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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.
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Blomstrand S et al. (1985) A case of lethal congenital dwarfism with accelerated skeletal maturation. 
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Loshkajian A et al. (1997) Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.
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Jobert AS et al. (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.
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Zhang P et al. (1998) A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.
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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.
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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.
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Young ID et al. (1993) A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?
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den Hollander NS et al. (1997) First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia.
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Oostra RJ et al. (2000) Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity.
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OMIM.ORG article Omim 215045
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