A novel long-range deletion spanning STX16 and NPEPL1 causing imprinting defects of the GNAS locus discovered in a patient with autosomal-dominant pseudohypoparathyroidism type 1B
Titel:
A novel long-range deletion spanning STX16 and NPEPL1 causing imprinting defects of the GNAS locus discovered in a patient with autosomal-dominant pseudohypoparathyroidism type 1B
Auteur:
Yang, Yi Chu, Xueying Nie, Min Song, An Jiang, Yan Li, Mei Xia, Weibo Xing, Xiaoping Wang, Ou