Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia

por Laver, Thomas W., Wakeling, Matthew N., Hua, Janet Hong Yeow, Houghton, Jayne A. L., Hussain, Khalid, Ellard, Sian, Flanagan, Sarah E.
Publicado 2018