罕见假性软骨发育不全软骨寡聚基质蛋白基因突变一例
1病例介绍患儿女,3岁2个月,出生时身高、体质量、外貌正常。2岁时开始出现步态异常,呈“鸭步样”,身高、体质量增长缓慢,语言和智力尚正常,精神、胃纳良好。父母身高、体质量均正常,否认近亲结婚和类似家族史。
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| Veröffentlicht in: | 中国修复重建外科杂志 2017, Vol.31 (12), p.1527-1528 |
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| container_title | 中国修复重建外科杂志 |
| container_volume | 31 |
| creator | 罗国晶 唐学阳 田丽 陈香 万珊 余希杰 |
| description | 1病例介绍患儿女,3岁2个月,出生时身高、体质量、外貌正常。2岁时开始出现步态异常,呈“鸭步样”,身高、体质量增长缓慢,语言和智力尚正常,精神、胃纳良好。父母身高、体质量均正常,否认近亲结婚和类似家族史。 |
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| fulltext | fulltext |
| identifier | ISSN: 1002-1892 |
| ispartof | 中国修复重建外科杂志, 2017, Vol.31 (12), p.1527-1528 |
| issn | 1002-1892 |
| language | chi |
| recordid | cdi_chongqing_primary_673983224 |
| source | EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | 侏儒 假性软骨发育不全 软骨寡聚基质蛋白 |
| title | 罕见假性软骨发育不全软骨寡聚基质蛋白基因突变一例 |
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