Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.

Yang, Lulu

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