Blomstrand’s Chondrodysplasia
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Publisher
Springer Milan
Link
http://link.springer.com/content/pdf/10.1007/978-88-470-5376-2_36
Reference22 articles.
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2. Jobert A-S, Zhang P, Couvineau A, Bonaventure J, Roume J, Le Merrer M, Silve C (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest 102:34–40
3. Jupper H, Schipani E (1997) The parathyroid hormone/parathyroid hormone-related peptide receptor in Jansen’s metaphyseal chondrodysplasia. Curr Opin Endocrinol Diabetes 4:433–442
4. Charrow J, Poznanski AK (1984) The Jansen type of metaphyseal chondrodysplasia: confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult. Am J Med Genet 18:321–327
5. Couvineau A, Wouters V, Bertrand G, Rouyer C, Gerard B, Boon LM, Grandchamp B, Vikkula M, Silve C (2008) PTH1R mutations associated with Ollier disease result in receptor loss of function. Hum Mol Genet 17:2766–2775
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1. Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases;The Journal of Maternal-Fetal & Neonatal Medicine;2016-08-10
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