A new acro-osteolysis syndrome caused by duplications including PTHLH-Reference-Cited by-同舟云学术

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A new acro-osteolysis syndrome caused by duplications including PTHLH

Published:2014-07-10 Issue:9 Volume:59 Page:484-487
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Gray Mary J,van Kogelenberg Margriet,Beddow Rachel,Morgan Tim,Wordsworth Paul,Shears Deborah J,Robertson Stephen P,Hurst Jane A

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201458.pdf

Reference10 articles.

1. Kronenberg, H. M. PTHrP and skeletal development. Ann. NY Acad. Sci. 1068, 1–13 (2006).

2. Maass, P. G., Wirth, J., Aydin, A., Rump, A., Stricker, S., Tinschert, S. et al. A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E. Hum. Mol. Genet. 19, 848–860 (2010).

3. Klopocki, E., Hennig, B. P., Dathe, K., Koll, R., de Ravel, T., Baten, E. et al. Deletion and point mutations of PTHLH cause brachydactyly type E. Am. J. Hum. Genet. 86, 434–439.

4. Collinson, M., Leonard, S. J., Charlton, J., Crolla, J. A., Silve, C., Hall, C. M. et al. Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH. Am. J. Med. Genet. A 152A, 3124–3128.

5. Simpson, M. A., Irving, M. D., Asilmaz, E., Gray, M. J., Dafou, D., Elmslie, F. V. et al. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat. Genet. 43, 303–305 (2011).

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report;Pediatric Rheumatology;2022-07-30

2. Structural pharmacology of PTH and PTHrP;Vitamins and Hormones;2022

3. The Endocrine System;Keeling's Fetal and Neonatal Pathology;2022

4. Lost bones: differential diagnosis of acro-osteolysis seen by the pediatric rheumatologist;Pediatric Rheumatology;2021-07-14

5. Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report;Bone Reports;2021-06

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