Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia
The application of MLPA provided an additional explanatory value of 10% to the molecular etiology. However, 10% of the cases of HH still remain unexplained even after a comprehensive genetic work-up. Biochemical findings suggest distinct biochemical profiles between FGF23-dependent and FGF23-independent HH groups.
Authors
- Pınar Ata (ORCID: https://orcid.org/0000-0002-6688-2347)
- Büşra Gürpınar Tosun (ORCID: https://orcid.org/0000-0002-7588-9807)
- Sare Betül Kaygusuz (ORCID: https://orcid.org/0000-0001-8457-8042)
- Mehmet Eltan (ORCID: https://orcid.org/0000-0001-6977-9620)
- Ahmet Arman (ORCID: https://orcid.org/0000-0001-5547-0024)
- Tülay Güran (ORCID: https://orcid.org/0000-0003-2658-6866)
- İlknur Kurt (ORCID: https://orcid.org/0000-0003-0649-7399)
- Saygın Abalı (ORCID: https://orcid.org/0000-0001-6552-2801)
- Serçin Güven (ORCID: https://orcid.org/0000-0003-3284-9204)
- Tarık Kırkgöz (ORCID: https://orcid.org/0000-0003-3450-9780)
- İbrahim Gökçe (ORCID: https://orcid.org/0000-0002-6896-5162)
- Abdullah Bereket (ORCID: https://orcid.org/0000-0002-6584-9043)
- Didem Helvacıoğlu (ORCID: https://orcid.org/0000-0001-8687-6326)
- Serap Turan (ORCID: https://orcid.org/0000-0002-5172-5402)
- Ceren Alavanda (ORCID: https://orcid.org/0000-0002-7327-3849)
- Zehra Yavaş Abalı (ORCID: https://orcid.org/0000-0002-8971-6181)
Institutions
- Kent Hastanesi (TR)
- Acıbadem Adana Hospital (TR)
- Marmara University (TR)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2024-12-19
- DOI
- https://doi.org/10.1210/clinem/dgae868
- Citations
- 3
- Primary Topic
- Parathyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.02