Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient-Reference-Cited by-同舟云学术

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Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient

Published:2017-06-27 Issue:1 Volume:5 Page:
ISSN:2095-6231
Container-title:Bone Research
language:en
Short-container-title:Bone Res

Author:

Wu Bo,Wang Ou,Jiang Yan,Li Mei,Xing Xiaoping,Xia Weibo

Publisher

Springer Science and Business Media LLC

Subject

Physiology,Histology,Endocrinology, Diabetes and Metabolism

Link

http://www.nature.com/articles/boneres20171.pdf

Reference35 articles.

1. Garner SC, Pi M, Tu Q et al. Rickets in cation-sensing receptor-deficient mice: an unexpected skeletal phenotype. Endocrinology 2001; 142: 3996–4005.

2. Szczawinska D, Schnabel D, Letz S et al. A homozygous casr mutation causing a FHH phenotype completely masked by vitamin d deficiency presenting as rickets. J Clin Endocrinol Metab 2014; 99: E1146–E1153.

3. Zajickova K, Vrbikova J, Canaff L et al. Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin d status. J Clin Endocrinol Metab 2007; 92: 2616–2623.

4. Hendy GN, Canaff L, Cole DE . The casr gene: alternative splicing and transcriptional control, and calcium-sensing receptor (CASR) protein: structure and ligand binding sites. Best Pract Res Clin Endocrinol Metab 2013; 27: 285–301.

5. Brennan SC, Mun HC, Leach K et al. Receptor expression modulates calcium-sensing receptor mediated intracellular ca2+ mobilization. Endocrinology 2015; 156: 1330–1342.

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2. Maxillomandibular osteotomy healing in a patient with hypophosphatemic rickets;International Journal of Oral and Maxillofacial Surgery;2021-12

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5. A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH;Case Reports in Endocrinology;2020-09-30

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