CREBBPmutations in individuals without Rubinstein-Taybi syndrome phenotype-Reference-Cited by-同舟云学术

CREBBPmutations in individuals without Rubinstein-Taybi syndrome phenotype

Published:2016-06-17 Issue:10 Volume:170 Page:2681-2693
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Menke Leonie A.¹,van Belzen Martine J.²,Alders Marielle³,Cristofoli Francesca⁴,Ehmke Nadja⁵,Fergelot Patricia⁶,Foster Alison⁷⁸,Gerkes Erica H.⁹,Hoffer Mariëtte J. V.²,Horn Denise⁵,Kant Sarina G.²,Lacombe Didier⁶,Leon Eyby¹⁰,Maas Saskia M.¹³,Melis Daniela¹¹,Muto Valentina¹²,Park Soo-Mi¹³,Peeters Hilde⁴,Peters Dorien J. M.¹⁴,Pfundt Rolph¹⁵,van Ravenswaaij-Arts Conny M. A.⁹,Tartaglia Marco¹²,Hennekam Raoul C. M.¹,

Affiliation:

1. Department of Pediatrics; Academic Medical Center; Amsterdam The Netherlands

2. Department of Clinical Genetics; Leiden University Medical Center; Leiden The Netherlands

3. Department of Clinical Genetics; Academic Medical Center; Amsterdam The Netherlands

4. Center for Human Genetics; University Hospitals Leuven, KU Leuven; Leuven Belgium

5. Institute of Medical and Human Genetics; Charité-Universitätsmedizin Berlin; Berlin Germany

6. Department of Genetics, and INSERM U1211; University Hospital of Bordeaux; Bordeaux France

7. Institute of Cancer and Genomic Sciences; University of Birmingham; Birmingham United Kingdom

8. Clinical Genetics Unit; University of Birmingham; Birmingham United Kingdom

9. Department of Genetics; University Medical Center Groningen, University of Groningen; Groningen The Netherlands

10. Division of Genetics and Metabolism; Children's National Health System; Washington District of Columbia

11. Department of Translational Medical Science; Federico II University; Naples Italy

12. Genetics and Rare Diseases Research Division; Ospedale Pediatrico Bambino Gesù; Rome Italy

13. Department of Clinical Genetics; Cambridge University Hospitals; Cambridge United Kingdom

14. Department of Human Genetics; Leiden University Medical Center; Leiden The Netherlands

15. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands

Funder

Health Innovation Challenge

Ministry of Health

Bulgari (GeneRare)

Charité-Universitätsmedizin Berlin

Berlin Institute of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference24 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Inheritance and variable expression in Rubinstein-Taybi syndrome;Bartsch;Am J Med Genet Part A,2010

3. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP;Bartsch;J Med Genet,2002

4. Growth charts for individuals with Rubinstein-Taybi syndrome;Beets;Am J Med Genet Part A,2014

5. Rubinstein-Taybi syndrome: Spectrum of CREBBP mutations in Italian patients;Bentivegna;BMC Med Genet,2006

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