| Title | SHOC2基因突变致努南样综合征1例并文献复习 |
| Author | |
| Publication Years | 2023
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| DOI | |
| Source Title | |
| ISSN | 1009-5659
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| Volume | 24Issue:4Pages:47-51 |
| Abstract | [目的]探讨SHOC2基因突变引起努南样综合征(Noonan-like Syndrome,NLS)的临床及遗传学特征.[方法]分析1例NLS患儿的临床资料及基因检测结果,总结该疾病的特点,并对已报道的NLS病例文献进行对比复习.[结果]2岁5个月男孩,表现为语言、认知、运动发育落后,伴有特殊面容、身材矮小、生长激素缺乏,医学外显子基因测序发现家系新变异,SHOC2基因c.4A>G(p.Ser2Gly)杂合变异,为致病性,临床相关联疾病为常染色体显性遗传的努南样综合征伴生长期头发松动(OMIM:607721,Noonan syndrome-like disorder with loose anagen hair,NS/LAH),而患儿父母未发现相关变异.[结论]SHOC2基因突变引起NLS,临床表现与努南综合征(Noonan Syndrome,NS)相似,要依靠基因检查进行鉴别诊断. |
| Keywords | |
| URL | [Source Record] |
| Language | Chinese
|
| SUSTech Authorship | Others
|
| Data Source | WanFang
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| WanFangID | zgkjcg202304023
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| Citation statistics |
Cited Times [WOS]:0
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| Document Type | Journal Article |
| Identifier | http://kc.sustech.edu.cn/handle/2SGJ60CL/524994 |
| Department | Shenzhen People's Hospital |
| Affiliation | 1.深圳市人民医院,广东 深圳 518020 2.暨南大学第二临床医学院,广东 深圳 518020 3.南方科技大学第一附属医院,广东 深圳 518020 4.深圳市罗湖区妇幼保健院,广东 深圳 518019 |
| Recommended Citation GB/T 7714 |
周克英,冯梅,周天天,等. SHOC2基因突变致努南样综合征1例并文献复习[J]. 中国科技成果,2023,24(4):47-51.
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| APA |
周克英.,冯梅.,周天天.,李丽.,夏志鹏.,...&龚建华.(2023).SHOC2基因突变致努南样综合征1例并文献复习.中国科技成果,24(4),47-51.
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| MLA |
周克英,et al."SHOC2基因突变致努南样综合征1例并文献复习".中国科技成果 24.4(2023):47-51.
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