Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel. [electronic resource]
- BMC medical genetics 12 2018
- 212 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1471-2350
10.1186/s12881-018-0730-6 doi
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