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Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children

机译：新型聚糖变量，p。 GLN2364PRO，导致严重的家族不健康的成人矮小身材和中国儿童生长激素差

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Dandan Xu; Chengjun Sun; Zeyi Zhou; Bingbing Wu; Lin Yang; Zhuo Chang; Miaoying Zhang; Li Xi; Ruoqian Cheng; Jinwen Ni; Feihong Luo;
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1. Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children [J] . Dandan Xu, Chengjun Sun, Zeyi Zhou, BMC Medical Genetics . 2018,第1期

机译：新的聚集蛋白聚糖变体，p。 Gln2364Pro，导致中国儿童严重的家族性非综合征成人矮小和生长激素反应不良
2. Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy [J] . LedjonaToni, PetraDu?átková, DanaNovotná, Journal of pediatric endocrinology & metabolism: JPEM . 2019,第7期

机译：由于LMNA C.433g> A [p。（glu145lys）]：表观增长激素缺乏，但对生长激素治疗的反应不佳
3. Comparison of response to 2-years’ growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency: combined results from two large ob [J] . Peter A Lee, Lars Savendahl, Isabelle Oliver, International journal of pediatric endocrinology . 2012,第1期

机译：孤立性生长激素缺乏症，小胎龄，特发性矮小或垂体多发性激素缺乏症儿童对2年期生长激素治疗的反应比较：两个大肥胖者的综合结果
4. Novel aggrecan variant p. Gln2364Pro causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children [O] . Dandan Xu, Chengjun Sun, Zeyi Zhou, 2018

机译：新的聚集蛋白聚糖变体p。 Gln2364Pro导致中国儿童严重的家族性非综合征成人矮小和生长激素反应不良
5. Comparison of response to 2-years’ growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency: combined results from two large observational studies [O] . Lee Peter A, Sävendahl Lars, Oliver Isabelle, 2012

机译：孤立性生长激素缺乏症，小胎龄，特发性矮小或多发性垂体激素缺乏症儿童对2年期生长激素治疗的反应比较：两项大型观察性研究的合并结果

Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children

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