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, cilt.8, ss.1719-1721, 2020 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 8 Konu: 9
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1002/ccr3.2962
  • Dergi Adı: CLINICAL CASE REPORTS
  • Sayfa Sayıları: ss.1719-1721

Özet

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.