Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia
CLINICAL CASE REPORTS, cilt.8, sa.9, ss.1719-1721, 2020 (ESCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 8 Sayı: 9
- Basım Tarihi: 2020
- Doi Numarası: 10.1002/ccr3.2962
- Dergi Adı: CLINICAL CASE REPORTS
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, EMBASE, Directory of Open Access Journals
- Sayfa Sayıları: ss.1719-1721
- Çukurova Üniversitesi Adresli: Evet
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.