Response to Letter to the Editor from Youn Hee Jee: Familial Short Stature - A New Phenotype of Growth Plate Collagenopathies

Abstrakt

In the Letter to the Editor commenting on our article entitled "Familial Short Stature - A Novel Phenotype of Growth Plate Collagenopathies" (2) by Youn Hee Jee, the results of the interpretation of genetic variants have been questioned based on the different variant classification in the ClinVar database.

Klíčová slova

• ClinVar database
• human genetic variant
• disease