Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound
Objective: We present detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound. Case report: A 37-year-old, primigravid woman was referred for level II ultrasound examination at 16 weeks of gestat...
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| Formaat: | Boek |
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Elsevier,
2019-11-01T00:00:00Z.
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A1234.567 |
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| Kopie 1 | Beschikbaar |