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Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome.
Jingjing Xiang
Lili Zhang
Wei Jiang
Qin Zhang
Ting Wang
Hai-Bo Li
Hong Li
Published in:
BioMed research international (2018)
Our study provides insights into prenatal and early diagnosis of JS and expands the variation spectrum of C5orf42 gene.
Keyphrases
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pregnant women
copy number
case report
dna methylation
transcription factor
genome wide identification