[1]
|
中华医学会儿科学分会内分泌遗传代谢学组, 中华儿科杂志编辑委员会. 矮身材儿童诊治指南[J]. 中华儿科杂志, 2008, 46(6): 428-430.
|
[2]
|
Cohen, P., Rogol, A.D., Deal, C.L., et al. (2008) Consensus Statement on the Diagnosis and Treatment of Children with Idiopathic Short Stature: A Summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop. The Journal of Clinical Endocrinology & Metabolism, 93, 4210-4217. https://doi.org/10.1210/jc.2008-0509
|
[3]
|
Hauer, N.N., Sticht, H., Boppudi, S., et al. (2017) Genetic Screening Confirms Heterozygous Mutations in ACAN as a Major Cause of Idiopathic Short Stature. Scientific Reports, 7, Article No. 12225.
https://doi.org/10.1038/s41598-017-12465-6
|
[4]
|
Roughley, P.J. and Mort, J.S. (2014) The Role of Aggrecan in Normal and Osteoarthritic Cartilage. Journal of Experimental Orthopaedics, 1, Article No. 8. https://doi.org/10.1186/s40634-014-0008-7
|
[5]
|
Baron, J., Sävendahl, L., De Luca, F., et al. (2015) Short and Tall Stature: A New Paradigm Emerges. Nature Reviews Endocrinology, 11, 735-746. https://doi.org/10.1038/nrendo.2015.165
|
[6]
|
Lauing, K.L., Cortes, M., Domowicz, M.S., et al. (2014) Aggrecan Is Required for Growth Plate Cytoarchitecture and Differentiation. Developmental Biology, 396, 224-236. https://doi.org/10.1016/j.ydbio.2014.10.005
|
[7]
|
Gkourogianni, A., Andrew, M., Tyzinski, L., et al. (2017) Clinical Characterization of Patients with Autosomal Dominant Short Stature Due to Aggrecan Mutations. The Journal of Clinical Endocrinology & Metabolism, 102, 460-469.
https://doi.org/10.1210/jc.2016-3313
|
[8]
|
Gleghorn, L., Ramesar, R., Beighton, P., et al. (2005) A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature Osteoarthritis. American Journal of Human Genetics, 77, 484-490. https://doi.org/10.1086/444401
|
[9]
|
Tompson, S.W., Merriman, B., Funari, V.A., et al. (2009) A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan. American Journal of Human Genetics, 84, 72-79. https://doi.org/10.1016/j.ajhg.2008.12.001
|
[10]
|
Nilsson, O., Guo, M.H., Dunbar, N., Popovic, J., et al. (2014) Short Stature, Accelerated Bone Maturation, and Early Growth Cessation Due to Heterozygous Aggrecan Mutations. The Journal of Clinical Endocrinology & Metabolism, 99, E1510-E1508. https://doi.org/10.1210/jc.2014-1332
|
[11]
|
Domowicz, M.S., Cortes, M., Henry, J.G. and Schwartz, N.B. (2009) Aggrecan Modulation of Growth Plate Morphogenesis. Developmental Biology, 329, 242-257. https://doi.org/10.1016/j.ydbio.2009.02.024
|
[12]
|
Tatsi, C., Gkourogianni, A., Mohnike, K., et al. (2017) Aggrecan Mutations in Nonfamilial Short Stature and Short Stature without Accelerated Skeletal Maturation. Journal of the Endocrine Society, 1, 1006-1011.
https://doi.org/10.1210/js.2017-00229
|
[13]
|
Hattori, A., Katoh-Fukui, Y., Nakamura, A., et al. (2017) Next Generation Sequencing-Based Mutation Screening of 86 Patients with Idiopathic Short Stature. Endocrine Journal, 64, 947-954. https://doi.org/10.1507/endocrj.EJ17-0150
|
[14]
|
Xu, D., Sun, C., Zhou, Z., et al. (2018) Novel Aggrecan Variant, p. Gln2364Pro, Causes Severe Familial Nonsyndromic Adult Short Stature and Poor Growth Hormone Response in Chinese Children. BMC Medical Genetics, 19, 79.
https://doi.org/10.1186/s12881-018-0591-z
|
[15]
|
van der Steen, M., Pfundt, R., Maas, S.J., et al. (2017) ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment. The Journal of Clinical Endocrinology & Metabolism, 102, 1458-1467.
https://doi.org/10.1210/jc.2016-2941
|
[16]
|
Lin, L., Li, M., Luo, J., Li, P., et al. (2021) A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children. The Journal of Clinical Endocrinology & Metabolism, 2, dgab088.
https://doi.org/10.1210/clinem/dgab088
|