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Open Access
Peer-reviewed
Research Article
Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3
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Sezer Acar ,
Contributed equally to this work with: Sezer Acar, Huda A. BinEssa
Roles Conceptualization, Data curation, Investigation, Methodology, Writing – original draft, Writing – review & editing
Affiliation Division of Pediatric Endocrinology, Dokuz Eylul University School of Medicine, Izmir, Turkey
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Huda A. BinEssa ,
Contributed equally to this work with: Sezer Acar, Huda A. BinEssa
Roles Data curation, Investigation, Methodology, Writing – review & editing
Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Korcan Demir,
Roles Conceptualization, Data curation, Investigation, Writing – original draft, Writing – review & editing
Affiliation Division of Pediatric Endocrinology, Dokuz Eylul University School of Medicine, Izmir, Turkey
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Roua A. Al-Rijjal,
Roles Data curation, Investigation, Methodology, Validation, Writing – review & editing
Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Minjing Zou,
Roles Data curation, Investigation, Methodology, Validation, Writing – review & editing
Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Gönül Çatli,
Roles Resources, Writing – review & editing
Affiliation Division of Pediatric Endocrinology, Katip Çelebi University School of Medicine, Izmir, Turkey
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Ahmet Anık,
Roles Resources
Affiliation Division of Pediatric Endocrinology, Adnan Menderes University School of Medicine, Izmir, Turkey
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Anwar F. Al-Enezi,
Roles Data curation, Investigation, Methodology
Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Seçil Özışık,
Roles Resources
Affiliation Department of Endocrinology, Dokuz Eylul University School of Medicine, Izmir, Turkey
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Manar S. A. Al-Faham,
Roles Data curation, Investigation, Methodology
Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Ayhan Abacı,
Roles Resources
Affiliation Division of Pediatric Endocrinology, Dokuz Eylul University School of Medicine, Izmir, Turkey
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Bumin Dündar,
Roles Resources
Affiliation Division of Pediatric Endocrinology, Katip Çelebi University School of Medicine, Izmir, Turkey
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Walaa E. Kattan,
Roles Data curation, Investigation
Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Maysoon Alsagob,
Roles Investigation, Methodology
Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Salih Kavukçu,
Roles Resources
Affiliation Division of Pediatric Nephrology, Dokuz Eylul University School of Medicine, Izmir, Turkey
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Hamdi E. Tamimi,
Roles Investigation
Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Brian F. Meyer,
Roles Supervision, Validation, Writing – review & editing
Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Ece Böber,
Roles Resources, Writing – review & editing
Affiliation Division of Pediatric Endocrinology, Dokuz Eylul University School of Medicine, Izmir, Turkey
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Yufei Shi
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Writing – original draft, Writing – review & editing
* E-mail: yufei@kfshrc.edu.sa
Affiliation Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia
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Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3
- Sezer Acar,
- Huda A. BinEssa,
- Korcan Demir,
- Roua A. Al-Rijjal,
- Minjing Zou,
- Gönül Çatli,
- Ahmet Anık,
- Anwar F. Al-Enezi,
- Seçil Özışık,
- Manar S. A. Al-Faham
- Published: March 5, 2018
- https://doi.org/10.1371/journal.pone.0193388