Kanako Tachikawa Miwa Yamazaki Toshimi Michigami
10.1297/cpe.2023-0019
Clin Pediatr Endocrinol
2023;32(3):180-187.
alpl deletion dominant-negative effect hypophosphatasia mutation
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/37362163/
Case Reports
PMC10288296
37362163
A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene
2023