Phenotypic spectrum of <i> <scp>BLM</scp> ‐ </i> and <scp> <i>RMI1</i> </scp> ‐related Bloom syndrome-Reference-Cited by-同舟云学术

Phenotypic spectrum of BLM ‐ and RMI1 ‐related Bloom syndrome

Published:2022-03-11 Issue:5-6 Volume:101 Page:559-564
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Gönenc Ipek Ilgin¹^ORCID,Elcioglu Nursel H.²³,Martinez Grijalva Carolina¹^ORCID,Aras Seda⁴,Großmann Nadine¹,Praulich Inka¹,Altmüller Janine⁵⁶⁷,Kaulfuß Silke¹,Li Yun¹,Nürnberg Peter⁵⁸,Burfeind Peter¹,Yigit Gökhan¹⁹^ORCID,Wollnik Bernd¹⁹¹⁰^ORCID

Affiliation:

1. Institute of Human Genetics University Medical Center Göttingen Göttingen Germany

2. Department of Pediatric Genetics Marmara University Medical School Istanbul Turkey

3. Eastern Mediterranean University School of Medicine Cyprus Mersin 10 Turkey

4. Department of Pediatric Haematology and Oncology Marmara University Medical School Istanbul Turkey

5. Cologne Center for Genomics (CCG) University of Cologne Cologne Germany

6. Berlin Institute of Health at Charité ‐ Universitätsmedizin Berlin Core Facility Genomics Berlin Germany

7. Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC) Berlin Germany

8. Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine, University Hospital Cologne Cologne Germany

9. German Center for Cardiovascular Research (DZHK), partner site Göttingen Göttingen Germany

10. Cluster of Excellence “Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells” (MBExC) University of Göttingen Göttingen Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14125

Reference17 articles.

1. Bloom's syndrome. I. Genetical and clinical observations in the first twenty‐seven patients;German J;Am J Hum Genet,1969

2. Syndrome-causing mutations of theBLMgene in persons in the Bloom's Syndrome Registry

3. RecQ helicases: multifunctional genome caretakers

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