Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia
CLINICAL CASE REPORTS, vol.8, no.9, pp.1719-1721, 2020 (ESCI, Scopus)
- 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.