The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort.
第一作者:
Jessica,Robinson
第一单位:
Neuroscience and Mental Health Research Institute, Hadyn Ellis Building, Cardiff, CF24 4HQ, UK.;School of Bioscience, The Sir Martin Evans Building, Museum Ave, Cardiff, CF10 3AX, UK.
作者:
医学主题词
DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);人类(Humans);男(雄)性(Male);突变(Mutation);回顾性研究(Retrospective Studies);横纹肌瘤(Rhabdomyoma);结节性硬化症(Tuberous Sclerosis);肿瘤抑制蛋白质类(Tumor Suppressor Proteins)
DOI
10.1186/s12916-022-02325-0
PMID
35440050
发布时间
2022-07-16
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BMC medicine
123页
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