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

BİŞGİN A., BOĞA İ., Cetin C., BÜYÜKKURT S.

CLINICAL CASE REPORTS, vol.8, no.9, pp.1719-1721, 2020 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 8 Issue: 9
  • Publication Date: 2020
  • Doi Number: 10.1002/ccr3.2962
  • Journal Name: CLINICAL CASE REPORTS
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, EMBASE, Directory of Open Access Journals
  • Page Numbers: pp.1719-1721
  • Çukurova University Affiliated: Yes

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.