First-trimester prenatal diagnosis of Coffin-Siris syndrome-related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology

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Veröffentlicht in:	Congenital anomalies 2023-11, Vol.63 (6), p.211-213
Hauptverfasser:	Jing, Xiang-Yi, Zhen, Li, Lin, Xiao-Mei, Li, Dong-Zhi
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple Diaphragm Exome Sequencing Face - abnormalities Female Gene sequencing Hand Deformities, Congenital - diagnosis Hand Deformities, Congenital - genetics Hernia Hernias, Diaphragmatic, Congenital - diagnostic imaging Hernias, Diaphragmatic, Congenital - genetics Humans Intellectual Disability - genetics Micrognathism - diagnosis Micrognathism - genetics Neck - abnormalities Pregnancy Pregnancy Trimester, First Prenatal Diagnosis
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