The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses
Abstract To identify the pathogenic gene variation in a Chinese family with Hereditary Multiple Exostoses (HME). By examining blood‐sourced DNA and clinical manifestations of the proband and his family members, the whole exome sequencing (WES) and Sanger sequencing were used to detect possibly patho...
| Հիմնական հեղինակներ: | , , , , |
|---|---|
| Ձևաչափ: | Հոդված |
| Լեզու: | English |
| Հրապարակվել է: |
Wiley
2022-09-01
|
| Շարք: | Clinical Case Reports |
| Խորագրեր: | |
| Առցանց հասանելիություն: | https://doi.org/10.1002/ccr3.6298 |