Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia
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DOI: 10.1002/pd.6268
Abstract: The congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and lung hypoplasia, is a common and severe birth defect that affects around 1 in 4000 live births. However, the etiology of most cases… read more here.
Keywords: cohort fetuses; diaphragmatic hernia; congenital diaphragmatic; number variations ... See more keywords
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
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DOI: 10.3390/genes13020261
Abstract: Osteocraniostenosis (OCS, OMIM #602361) is a severe, usually lethal condition characterized by gracile bones with thin diaphyses, a cloverleaf-shaped skull and splenic hypo/aplasia. The condition is caused by heterozygous mutations in the FAM111A gene and… read more here.
Keywords: molecular diagnosis; fetuses newborns; osteocraniostenosis; diagnosis osteocraniostenosis ... See more keywords