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1例Rubinstein-Taybi综合征的临床及CREBBP基因新突变分析

The patient was a girl aged 3 years and 8 months with normal body length and body weight at birth. The girl had feeding difficulty after birth. Her height, body weight, and head circumference were below the 3rd percentile. She had intellectual disability and an unusual facies manifesting as arched s...

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Détails bibliographiques
Publié dans:Zhongguo Dang Dai Er Ke Za Zhi
Format: Artigo
Langue:Inglês
Publié: 中国当代儿科杂志编辑部 2017
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7389331/
https://ncbi.nlm.nih.gov/pubmed/29132461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2017.11.006
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