Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia

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. AbstractThe 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.

Source: Clinical Case Reports - June 20, 2020 Category: General Medicine Authors: Atil Bisgin, Ibrahim Boga, Cihan Cetin, Selim Buyukkurt Tags: CASE REPORT Source Type: research