0000000001151283
AUTHOR
S. Nambot
Isolated familial choanal atresia: a new entity in the phenotypic spectrum of KMT2D gene
International audience
P09.084C - Strong interest of exome sequencing in progressive neurological diseases
International audience; Introduction: Neurogenetics represents a vast, complex, ever changing discipline whose diagnosis currently remains challenging, since clinical and/or imaging features frequently appear very unspecific, especially early in the evolution (cerebellar ataxia, tremor, dystonia...). In molecular diagnosis, current strategies usually include sequential investigations that may lead to long, tedious, expensive and disappointing patients care. Exome sequencing (ES) appears a promising approach for neurogenetics, apart from when nucleotide motif expansion disorders can be suspected. Materials and Methods: We recruited 48 individuals without cognitive development impairment, ref…