以矮小与下蹲困难为首发症状的Myhre综合征1例及文献复习

武慧, 王新利

中国儿童保健杂志 ›› 2020, Vol. 28 ›› Issue (10) : 1182-1184.

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中国儿童保健杂志 ›› 2020, Vol. 28 ›› Issue (10) : 1182-1184. DOI: 10.11852/zgetbjzz2020-0508
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以矮小与下蹲困难为首发症状的Myhre综合征1例及文献复习

  • 武慧, 王新利
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武慧, 王新利. 以矮小与下蹲困难为首发症状的Myhre综合征1例及文献复习[J]. 中国儿童保健杂志. 2020, 28(10): 1182-1184 https://doi.org/10.11852/zgetbjzz2020-0508
中图分类号: R725.9   

参考文献

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[3] Le Goff C, Michot C, Cormier-Daire V.Myhre syndrome[J].Clinical Genetics, 2014, 85 (6):503-513.
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[5] Meerschaut I, Beyens A, Steyaert W, et al.Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum[J].Am J Med Genet A, 2019,179 (12):2494-2499.
[6] Caputo V, Cianetti L, Niceta M, et al.A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome[J].Am J Hum Genet, 2012, 90 (1):161-169.
[7] Whitaker AT, Berthet E, Cantu A, et al.Smad4 regulates growth plate matrix production and chondrocyte polarity[J].Biol Open, 2017, 6 (3):358-364.
[8] Wang J, Xu N, Feng X, et al.Targeted disruption of smad4 in cardiomyocytes results in cardiac hypertrophy and heart failure[J].Cir Res, 2005, 97 (8):821-828.
[9] Picco P, Naselli A, Pala G, et al.Recurrent Pericarditis in Myhre syndrome[J].Am J Med Genet A, 2013, 161 (5):1164-1166.
[10] McGowan R, Gulati R, McHenry P, et al.Clinical features and respiratory complications in Myhre syndrome[J].Eur J Med Genet, 2011.
[11] Whiteford ML, Doig WB, Raine PA, et al.A new case of Myhre syndrome[J].Clin Dysmorphol,2001,10 (2):135-140.
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