Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia | Zendy

Sheela Nampoothiri | Zendy; Eduardo FernándezRebollo | Zendy; Dhanya Yesodharan | Zendy; Thomas J. Gardella | Zendy; Eric T. Rush | Zendy; Craig B. Langman | Zendy; Harald Jüppner | Zendy

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Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia

Author(s) -

Sheela Nampoothiri,

Eduardo FernándezRebollo,

Dhanya Yesodharan,

Thomas J. Gardella,

Eric T. Rush,

Craig B. Langman,

Harald Jüppner

Publication year - 2016

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2016-2054

Subject(s) - sanger sequencing , mutation , endochondral ossification , medicine , dysplasia , genetics , biology , cartilage , gene , anatomy

Jansen's metaphyseal chondrodysplasia (JMC) is a rare skeletal dysplasia characterized by abnormal endochondral bone formation and typically severe hypercalcemia despite normal/low levels of PTH. Five different heterozygous activating PTH/PTHrP receptor (PTH1R) mutations that change one of three different amino acid residues are known to cause JMC.

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