Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia
Laver, Thomas W, Wakeling, Matthew N, Hua, Janet Hong Yeow, Houghton, Jayne AL, Hussain, Khalid, Ellard, Sian, Flanagan, Sarah ELanguage:
english
Journal:
Clinical Endocrinology
DOI:
10.1111/cen.13841
Date:
August, 2018
File:
PDF, 540 KB
english, 2018