Ontology highlight
ABSTRACT:
SUBMITTER: Aeby M
PROVIDER: S-EPMC5119715 | biostudies-literature | 2016 May-Aug
REPOSITORIES: biostudies-literature
Aeby Mathias M Wyss Tobias T Mentrup Birgit B Kunstmann Erdmute E Jakob Franz F Aeberli Daniel D
Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases 20160501 2
We present a 44-year-old female patient with recurrent fragility fractures including an intercondylar femoral fracture and with normal planar bone densitometry. Diagnosis of hypophosphatasia was suggested by low volumetric cortical bone mineral density and laboratory findings. DNA sequencing revealed heterozygous mutations in the exons 5, 6 and 9 of the ALPL gene, thus confirming the suspected diagnosis. ...[more]