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Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis
Pemberton, Lara, Barker, Robert, Cockell, Anna, Ramachandran, Vijaya, Haworth, Andrea, Homfray, TessaVolume:
21
Language:
english
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-019-0939-z
Date:
December, 2020
File:
PDF, 420 KB
english, 2020