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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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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 2017
Matèries:
Accés en línia: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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