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

Clin Case Rep. 2020 Jun 21;8(9):1719-1721. doi: 10.1002/ccr3.2962. eCollection 2020 Sep.

Abstract

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.

Keywords: genetic counseling; hypophosphatasia; prenatal diagnosis.

Publication types

  • Case Reports