Further characterization of <scp>Borjeson‐Forssman‐Lehmann</scp> syndrome in females due to de novo variants in <scp> <i>PHF6</i> </scp>-Reference-Cited by-同舟云学术

Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6

Published:2022-06-14 Issue:3 Volume:102 Page:182-190
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Gerber Céline B.¹,Fliedner Anna²,Bartsch Oliver³,Berland Siren⁴,Dewenter Malin³,Haug Marte⁵,Hayes Ian⁶,Marin‐Reina Purificacion⁷,Mark Paul R.⁸,Martinez‐Castellano Francisco⁷,Maystadt Isabelle⁹,Karadurmus Deniz⁹,Steindl Katharina¹⁰,Wiesener Antje²,Zweier Markus¹⁰,Sticht Heinrich¹¹,Zweier Christiane¹²^ORCID

Affiliation:

1. Department of Human Genetics Inselspital, Bern University Hospital, University of Bern Bern Switzerland

2. Institute of Human Genetics Friedrich‐Alexander‐Universität Erlangen‐Nürnberg Erlangen Germany

3. Institute of Human Genetics University Medical Center of the Johannes Gutenberg‐University Mainz Mainz Germany

4. Department of Medical Genetics Haukeland University Hospital Bergen Norway

5. Department of Medical Genetics St. Olav's University Hospital Trondheim Norway

6. Genetic Health Service New Zealand Auckland Hospital Auckland New Zealand

7. Genetics Unit/Department of Pediatrics and Medical Genetics University and Polytechnic Hospital La Fe Valencia Spain

8. Spectrum Health, Division of Medical and Molecular Genetics Grand Rapids Michigan USA

9. Center for Human Genetics Institute of Pathology and Genetics Gosselies Belgium

10. Institute of Medical Genetics University of Zurich Schlieren‐Zurich Switzerland

11. Institute of Biochemistry Friedrich‐Alexander‐Universität Erlangen‐Nürnberg Erlangen Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14173

Reference24 articles.

1. Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome

2. The X-Linked Intellectual Disability Protein PHF6 Associates with the PAF1 Complex and Regulates Neuronal Migration in the Mammalian Brain

3. Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function

4. PHF6 Regulates Cell Cycle Progression by Suppressing Ribosomal RNA Synthesis

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