Publications by authors named "Veronique Adouard"
Am J Med Genet A
April 2019
Article Synopsis
- * Recent findings indicate that missense variants in the AMMECR1 gene are primarily responsible for most of the AMME syndrome features, excluding Alport syndrome.
- * Two unrelated male patients showed symptoms like short stature and mild intellectual disability due to small microdeletions involving the TMEM164 and AMMECR1 genes, supporting the idea that AMMECR1 haploinsufficiency is key to the syndrome’s symptoms.
Eur J Med Genet
June 2017
Article Synopsis
- Noonan syndrome is a genetic condition characterized by congenital heart defects, short stature, and unique facial features, commonly including pulmonary valve stenosis and hypertrophic cardiomyopathy.
- A case report introduced the first instance of congenital left main coronary artery atresia linked to Noonan syndrome with a RIT1 variant, resulting in sudden death.
- This finding highlights the increased severity of RIT1-related Noonan syndrome, urging clinicians to exercise greater caution when treating these patients.
