Homozygous DMRT2 variant associates with severe rib malformations in a newborn. [electronic resource]
Producer: 20190520Description: 1216-1221 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- diagnosis
- Alleles
- DNA-Binding Proteins -- genetics
- Fatal Outcome
- Genetic Association Studies
- Genetic Predisposition to Disease
- Hernia, Diaphragmatic -- diagnosis
- Heterozygote
- Homozygote
- Humans
- Infant, Newborn
- Male
- Mutation
- Phenotype
- Radiography
- Ribs -- abnormalities
- Spine -- abnormalities
- Tomography, Spiral Computed
- Transcription Factors -- genetics
- Exome Sequencing
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Publication Type: Case Reports; Journal Article
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