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反复纳差伴皮肤色素沉着2月余

A 2-month-old boy presented with adrenal insufficiency, impaired liver function, hypertriglyceridemia, significantly elevated creatine kinase and electrolyte disturbance. Microarray comparative genomic hybridization (aCGH) analysis test showed a pathogenic 8.7 Mb deletion in the short arm of chromos...

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Bibliografiske detaljer
Udgivet i:Zhongguo Dang Dai Er Ke Za Zhi
Format: Artigo
Sprog:Inglês
Udgivet: 中国当代儿科杂志编辑部 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7390047/
https://ncbi.nlm.nih.gov/pubmed/28774370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2017.08.015
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