Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. [electronic resource]
Producer: 20170630Description: 640-646 p. digitalISSN:- 1399-0004
- Carrier Proteins -- genetics
- Ciliopathies -- diagnosis
- Craniosynostoses -- diagnosis
- Exome -- genetics
- Female
- Genetic Predisposition to Disease
- Heterozygote
- High-Throughput Nucleotide Sequencing
- Humans
- Intellectual Disability -- diagnosis
- Male
- Pedigree
- RNA Splice Sites -- genetics
- Sequence Deletion -- genetics
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Publication Type: Journal Article
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