Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis
LI Deng-Feng, LAN Dan, ZHONG Jing-Zi, Roma Kajal Dewan, XIE Yan-Shu, YANG Ying
CJCP . 2017, (5): 539 -544 .  DOI: 10.7499/j.issn.1008-8830.2017.05.012