Homozygous c.130–131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry-Reference-Cited by-同舟云学术

Homozygous c.130–131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry

Published:2019-07-19 Issue: Volume: Page:
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatr Blood Cancer

Author:

Yılmaz Karapınar Deniz¹^ORCID,Patıroğlu Türkan²,Metin Ayşe³,Çalışkan Ümran⁴,Celkan Tiraje⁵,Yılmaz Barış⁶^ORCID,Karakaş Zeynep⁷,Karapınar Tuba H.⁸^ORCID,Akıncı Burcu¹,Özkınay Ferda⁹,Onay Hüseyin¹⁰,Yeşilipek Mehmet Akif¹¹,Akar Himmet Haluk²,Tüysüz Gülen¹²,Tokgöz Hüseyin⁴,Özdemir Gül Nihal⁵^ORCID,Aslan Kıykım Ayça¹³^ORCID,Karaman Serap⁷^ORCID,Kılınç Yurdanur¹⁴,Oymak Yeşim⁸,Küpesiz Alphan¹²,Olcay Lale¹⁵,Keskin Yıldırım Zuhal¹⁶,Aydoğan Gönül¹⁷,Gökçe Müge¹⁸,İleri Talia¹⁹,Aral Yusuf Ziya²⁰,Bay Ali²¹,Atabay Berna²²,Kaya Zuhre²³,Söker Murat²⁴,Özdemir Karadaş Nihal²⁵^ORCID,Özbek Uğur²⁶,Özsait Selçuk Bilge²⁶,Özdemir Hamiyet Hekimci²⁷,Uygun Vedat²⁸^ORCID,Tezcan Karasu Gülsün²⁸,Yılmaz Şebnem²⁹

Affiliation:

1. Department of Pediatric HematologyEge University Faculty of Medicine İzmir Turkey

2. Department of Pediatric ImmunologyErciyes University Faculty of Medicine İzmir Turkey

3. Department of Pediatric ImmunologyAnkara Children's Hematology Oncology Training and Research Hospital Ankara Turkey

4. Department of Pediatric Hematology‐Oncology, Meram Faculty of MedicineNecmettin Erbakan University Konya Turkey

5. Department of Pediatric HematologyCerrahpaşa Medical Facultyİstanbul University Istanbul Turkey

6. Department of Pediatric HematologyMarmara University Faculty of Medicine Istanbul Turkey

7. Department of Pediatric Hematology‐Oncologyİstanbul UniversityIstanbul Faculty of Medicine Istanbul Turkey

8. Department of Pediatric Hematology‐OncologyDr. Behçet Uz Children Research and Training Hospital İzmir Turkey

9. Department of Pediatric GeneticEge University Faculty of Medicine İzmir Turkey

10. Department of Medical GeneticEge University Faculty of Medicine İzmir Turkey

11. Pediatric Bone Marrow Transplantation UnitMedical Park Göztepe Hospital Istanbul Turkey

12. Department of Pediatric HematologyAkdeniz University Medical School Antalya Turkey

13. Department of Pediatric Allergy and ImmunologyMarmara University Faculty of Medicine Istanbul Turkey

14. Department of Pediatric HematologyÇukurova University Faculty of Medicine Adana Turkey

15. Department of Pediatric HematologyBaşkent University Faculty of Medicine Ankara Turkey

16. Department of Pediatric HematologyAtatürk University Faculty of Medicine Erzurum Turkey

17. Department of Pediatric HematologyKanuni Sultan Süleyman Research and Training Hospital Istanbul Turkey

18. Department of Pediatric Bone marrow Transplantation UnitYeni Yüzyıl ÜniversitesiGaziosmanpaşa Hastanesi Istanbul Turkey

19. Department of Pediatric HematologyAnkara University Medical Faculty Ankara Turkey

20. Department of Pediatric HematologyAdnan Menderes University Faculty of Medicine Aydın Turkey

21. Department of Pediatric HematologyGaziantep University Faculty of Medicine Gaziantep Turkey

22. Department of Pediatric HematologyTepecik Teaching and Research Hospital İzmir Turkey

23. Department of Pediatric HematologyGazi University Faculty of Medicine Ankara Turkey

24. Department of Pediatric HematologyDicle University Faculty of Medicine Diyarbakır Turkey

25. Balıkesir Ataturk City Hospital Balıkesir Turkey

26. Department of Geneticsİstanbul University Faculty of Medicine Istanbul Turkey

27. Department of Pediatric Hematology and Oncology, Faculty of MedicineFırat University Elazığ Turkey

28. Pediatric Bone Marrow Transplantation UnitMedical Park Antalya Hospital Antalya Turkey

29. Department of Pediatric HematologyDokuz Eylül University Faculty of Medicine İzmir Turkey

Funder

Türkiye Bilimsel ve Teknolojik Araştirma Kurumu

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.27923

Reference31 articles.

1. The Severe Chronic Neutropenia International Registry: 10-Year Follow-up Report

2. How I manage children with neutropenia

3. Congenital neutropenia: diagnosis, molecular bases and patient management

4. Epidemiology of Congenital Neutropenia

5. Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history

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4. Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel;European Journal of Haematology;2024-04-11

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