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2例Cornelia de Lange综合征患儿NIPBL基因突变研究

Both children (one boy and one girl) experienced disease onset in infancy and visited the hospital due to growth retardation. They had unusual facies including thick hair, arched and confluent eyebrows, long and curly eyelashes, short nose, and micrognathia. Patient 1 had congenital heart disease (a...

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Vydáno v:Zhongguo Dang Dai Er Ke Za Zhi
Médium: Artigo
Jazyk:Inglês
Vydáno: 中国当代儿科杂志编辑部 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7389061/
https://ncbi.nlm.nih.gov/pubmed/29764576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2018.05.010
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