Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia
oleh: Atil Bisgin, Ibrahim Boga, Cihan Cetin, Selim Buyukkurt
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2020-09-01 |
Deskripsi
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.