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A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome.
Clinical Dysmorphology ( IF 0.7 ) Pub Date : 2019-10-15 , DOI: 10.1097/mcd.0000000000000304 Elizabeth Oakley-Hannibal 1 , Neeti Ghali 1 , Francis Michael Pope 2 , Elisa De Franco 3, 4 , Sian Ellard 3, 4 , Fleur S van Dijk 1 , Angela F Brady 1
中文翻译:
PIEZO2基因变异具有纯合性的神经肌肉疾病:脊柱后凸性埃勒斯-丹洛斯综合症的重要鉴别诊断。
更新日期:2019-11-01
Clinical Dysmorphology ( IF 0.7 ) Pub Date : 2019-10-15 , DOI: 10.1097/mcd.0000000000000304 Elizabeth Oakley-Hannibal 1 , Neeti Ghali 1 , Francis Michael Pope 2 , Elisa De Franco 3, 4 , Sian Ellard 3, 4 , Fleur S van Dijk 1 , Angela F Brady 1
Affiliation
中文翻译:
PIEZO2基因变异具有纯合性的神经肌肉疾病:脊柱后凸性埃勒斯-丹洛斯综合症的重要鉴别诊断。