0000000000627520
AUTHOR
Y. Duffourd
Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, JUN 16-19, 2018; International audience
Prospective interest in deploying multi-omics approaches to solve unsolved patients with suspected monogenic developmental delay syndromes
International audience