Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany. [electronic resource]
Producer: 20190927Description: 198-205 p. digitalISSN:- 1552-4876
- Brain -- abnormalities
- Branchial Region -- abnormalities
- Chromosome Deletion
- Chromosomes, Human, Pair 1 -- genetics
- Eye Proteins -- genetics
- Facies
- Female
- Genetic Testing -- methods
- Germany
- Hedgehog Proteins -- genetics
- High-Throughput Nucleotide Sequencing -- methods
- Holoprosencephaly -- diagnosis
- Homeodomain Proteins -- genetics
- Humans
- Male
- Microphthalmos -- diagnosis
- Mutation
- Nerve Tissue Proteins -- genetics
- Nuclear Proteins -- genetics
- Pedigree
- Pregnancy
- Prenatal Diagnosis
- Transcription Factors -- genetics
- Homeobox Protein SIX3
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Publication Type: Journal Article
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