Description Module
The Description Module contains narrative descriptions of the clinical trial, including a brief summary and detailed description. These descriptions provide important information about the study's purpose, methodology, and key details in language accessible to both researchers and the general public.
Description Module path is as follows:
Study -> Protocol Section -> Description Module
Description Module
Ignite Creation Date:
2025-12-25 @ 12:06 AM
Ignite Modification Date:
2025-12-25 @ 12:06 AM
NCT ID:
NCT04056858
Brief Summary:
The aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients.
Detailed Description:
Goldenhar syndrome belongs to the heterogeneous spectrum of oculoauriculovertebral dysplasia. Several chromosomal abnormalities have been described associated with this spectrum, and furthermore mutations in different genes of development cause abnormalities of the jaw or facial asymmetries in human or mouse. To date, no gene has been identified as formally involved in the genesis of the OAVS, despite evidence of familial cases, mostly with autosomal dominant inheritance.
The aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients.
Study:
NCT04056858
Study Brief:
Protocol Section:
NCT04056858