Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel. [electronic resource]
Producer: 20190522Description: 212 p. digitalISSN:- 1471-2350
- Adolescent
- Aggrecans -- genetics
- Arthritis -- diagnosis
- Asian People
- Cartilage Oligomeric Matrix Protein -- genetics
- Child
- Child, Preschool
- Collagen Type II -- genetics
- Connective Tissue Diseases -- diagnosis
- Dwarfism -- diagnosis
- Female
- Gene Expression
- Genetic Testing -- methods
- Hearing Loss, Sensorineural -- diagnosis
- High-Throughput Nucleotide Sequencing
- Homeodomain Proteins -- genetics
- Humans
- Male
- Mutation
- Noonan Syndrome -- diagnosis
- Osteochondrodysplasias -- diagnosis
- Protein Tyrosine Phosphatase, Non-Receptor Type 11 -- genetics
- Retinal Detachment -- diagnosis
- SOS1 Protein -- genetics
- Transcription Factors -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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