Transcription factor SOX10 plays a role in the maintenance of progenitor cell multipotency,
lineage specification, and cell differentiation and is a major actor in the development of the …

Pathogenic variants in FLNC encoding filamin C have been firstly reported to cause
myopathies, and were recently linked to isolated cardiac phenotypes. Our aim was to …

Hearing loss and visual impairment in childhood have mostly genetic origins, some of them
being related to sensorial neuronal defects. Here, we report on eight subjects from four …

Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II
collagenopathies. We assessed the impact of this gene in our French series. A decision tree …

Secondary findings (SF) differ from incidental findings as they are actively sought and
systematically evaluated using a list of genes selected based on guidelines developed by …

Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal
opacity and irido‐lenticulo‐corneal adhesions. Several genes are involved in syndromic or …

Usher syndrome is an autosomal recessive disorder characterized by congenital hearing
loss combined with retinitis pigmentosa, and in some cases, vestibular areflexia. Three …

Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary
heart disease, but the impact of result disclosure has been little studied. We evaluated the …

Aims To phenotype patients referred to a tertiary centre for the exploration of a left ventricular
hypertrophy (LVH) starting from 12 mm of left ventricular wall thickness (LVWT). Methods …

Aims Tricuspid regurgitation (TR) is a common finding and has been associated with poorer
outcome in patients with heart failure. This study sought to investigate the prognostic value …