The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Mutation of TBCE causes hypoparathyroidism– retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome
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Citations
Cites
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Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., et al. (1998) · Nature · doi:10.1038/31508 · Cited by 3,498
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Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats
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Charcot-Marie-Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1Bβ
Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00363-4 · Cited by 767
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Cited by
Axonal transport and neurodegenerative disease
Chevalier-Larsen, E., & Holzbaur, E. L. F. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2006.04.002 · Cited by 438
Hormones and Disorders of Mineral Metabolism
Bringhurst, F. R., Demay, M. B., & Kronenberg, H. M. (2011) · Williams Textbook of Endocrinology · doi:10.1016/b978-1-4377-0324-5.00028-6 · Cited by 298
One gene, many neuropsychiatric disorders: lessons from Mendelian diseases
Zhu, X., Need, A. C., Petrovski, S., & Goldstein, D. B. (2014) · Nature Neuroscience · doi:10.1038/nn.3713 · Cited by 131
Tian, G., Jaglin, X. H., Keays, D. A., Francis, F., Chelly, J., & Cowan, N. J. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq276 · Cited by 71
Metadata
- Authors
- The HRD/Autosomal Recessive Kenny–Caffey Syndrome Consortium
- Venue
- Nature Genetics
- Published
- 2002-10-21
- Volume
- 32
- Issue
- 3
- Pages
- 448-452
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1987838515
- Cited by
- 273
- References
- 25
- FWCI
- 3.67
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Mutation of TBCE causes hypoparathyroidism– retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome. https://app.cochat.ai/papers/10.1038/ng1012
- The paper
- The HRD/Autosomal Recessive Kenny–Caffey Syndrome Consortium. (2002). Mutation of TBCE causes hypoparathyroidism– retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome. Nature Genetics. https://doi.org/10.1038/ng1012
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
