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Jansen's metaphyseal chondrodysplasia: A disorder due to a PTH/PTHrP receptor gene mutation

✍ Scribed by Harald Jüppner


Book ID
116172413
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
892 KB
Volume
7
Category
Article
ISSN
1043-2760

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X-linked recessive chondrodysplasia punc
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Chondrodysplasia punctata (CP) is a heterogeneous group of bone dysplasias that are characterized by abnormal calcium deposition in areas of enchondral bone formation. The existence of an X-linked recessive form of chondrodysplasia punctata (CDPX) has been recognized in patients who are nullisomic f