CLINICAL CASE REPORTS, vol.8, no.9, pp.1719-1721, 2020 (Journal Indexed in ESCI)
Article / Article
Title of Journal :
CLINICAL CASE REPORTS
The lack of awareness of patient risk factors, failure to obtain adequate family history, was discussed by clinical experience in prenatal testing of hypophosphatasia with a novel variant in the ALPL gene identified in the index case of the family.