Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case-Reference-Cited by-同舟云学术

Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case

Published:2024-08-27 Issue: Volume: Page:
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatric Blood & Cancer

Author:

Dorosh Olha¹²,Bodak Khrystyna¹,Tsymbalyuk‐Voloshyn Iryna¹,Makukh Halyna³⁴,Kreminska Olena⁵,Hrytsiuk Ihor⁶,Battisti Laura⁷,Erlacher Miriam⁸⁹,Wlodarski Marcin¹⁰,McGlacken‐Byrne Sinead M¹¹,Achermann John C¹¹,Niemeyer Charlotte M⁸,Yoshimi Ayami⁸^ORCID

Affiliation:

1. Department of Hematology and Intensive Chemotherapy Communal Noncommercial Enterprise of Lviv Regional Council Western Ukrainian Specialized Pediatric Medical Centre Lviv Ukraine

2. Department of Pediatrics and Neonatology, Faculty of Postgraduate Education Danylo Halytsky Lviv National Medical University Lviv Ukraine

3. Lviv Regional Clinical Perinatal Centre Regional Centre of newborn screening, KNP Lviv Ukraine

4. Scientific Department Scientific Medical Genetic Center “LeoGENE,” Lviv Ukraine

5. Department of Pediatrics Communal Noncommercial Enterprise of Lviv Regional Council Western Ukrainian Specialized Pediatric Medical Centre Lviv Ukraine

6. Laboratory of Oncohematology CSD LAB Medical Laboratory Kyiv Ukraine

7. Division of Pediatric Hematology Oncology Pediatric Central Hospital of Bolzano Bolzano Italy

8. Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine University of Freiburg Freiburg Germany

9. Department of Pediatrics and Adolescent Medicine University Medical Center Ulm Ulm Germany

10. Department of Hematology St. Jude Children's Research Hospital Memphis Tennessee USA

11. Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health University College London London UK

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.31294

Reference16 articles.

1. Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: a new case with dysmorphic male genitalia;Massey GV;Pediatr Blood Cancer,2024

2. A novel, erythroid cell-specific murine transcription factor that binds to the CACCC element and is related to the Krüppel family of nuclear proteins.

3. A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

4. A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44 and a unique blood group phenotype [In(a-b- ), Co(a-b-)]

5. Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: Review of all reported cases and development of a clinical diagnostic paradigm