Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound. [electronic resource]
Producer: 20200504Description: 859-863 p. digitalISSN:- 1875-6263
- Abnormalities, Multiple -- diagnosis
- Adult
- Chromosome Deletion
- Chromosomes, Human, Pair 1 -- genetics
- DNA -- genetics
- DNA Helicases -- genetics
- DNA Mutational Analysis
- DNA-Binding Proteins -- genetics
- Female
- Humans
- Kidney Tubules, Proximal -- abnormalities
- Megalencephaly -- diagnosis
- Mutation, Missense
- Oligohydramnios -- diagnosis
- Pregnancy
- Ultrasonography, Prenatal -- methods
- Urogenital Abnormalities -- diagnosis
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Publication Type: Case Reports; Journal Article
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