An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. [electronic resource]
Producer: 20161213Description: 1080-5 p. digitalISSN:- 1552-4833
- Alleles
- Collagen Type I -- genetics
- Collagen Type I, alpha 1 Chain
- DNA Mutational Analysis
- Ehlers-Danlos Syndrome -- diagnosis
- Exome
- Heterozygote
- High-Throughput Nucleotide Sequencing
- Humans
- Immunohistochemistry
- Infant
- Male
- Mutation
- Osteogenesis Imperfecta -- diagnosis
- Pedigree
- Phenotype
- Tenascin -- genetics
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Publication Type: Case Reports; Journal Article
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