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一例13号环状染色体综合征患儿的临床及遗传学分析

A girl aged 5 months was admitted due to developmental delay. Physical examination showed delayed physical development, unusual facies (microcephalus, hypertelorism, low-set ears, wide nasal bridge, and short philtrum), and an absence of the labium minus at one side. The peripheral blood karyotype w...

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Dades bibliogràfiques
Publicat a:Zhongguo Dang Dai Er Ke Za Zhi
Format: Artigo
Idioma:Inglês
Publicat: 中国当代儿科杂志编辑部 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7389945/
https://ncbi.nlm.nih.gov/pubmed/29972124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2018.06.011
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