A de novo mutation in GNAS cause severe pseudohypoparathyroidism type Ⅰa 
SHEN Min, LIU Lin, LIU Yang, LU Hongwen, PANG Linan, CHU Xun
Journal of Clinical Pediatrics . 2017, (8): 601 - .  DOI: 10.3969/j.issn.1000-3606.2017.08.010