Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients-Reference-Cited by-同舟云学术

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients

Published:2017-11-21 Issue:1 Volume:176 Page:187-193
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Yilmaz Rüstem¹²,Szakszon Katalin³^ORCID,Altmann Anna⁴,Altunoglu Umut⁵,Senturk Leyli⁵,McGuire Marianne⁶,Calabrese Olga⁷,Madan-Khetarpal Suneeta⁸,Basel-Vanagaite Lina⁹¹⁰¹¹¹²,Borck Guntram¹^ORCID

Affiliation:

1. Institute of Human Genetics; University of Ulm; Ulm Germany

2. International Graduate School in Molecular Medicine Ulm; University of Ulm; Ulm Germany

3. Faculty of Medicine; Institute of Pediatrics; University of Debrecen; Debrecen Hungary

4. St. John Hospital Buda Children's Hospital; Epilepsy Center; Budapest Hungary

5. Medical Genetics Department; Istanbul Medical Faculty; Istanbul University; Istanbul Turkey

6. Baylor Miraca Genetic Laboratories; Houston Texas

7. Medical Genetic Service; ASL di Imola; Imola Italy

8. University of Pittsburgh Medical Center; Pittsburgh Pennsylvania

9. The Raphael Recanati Genetic Institute; Rabin Medical Center; Petach Tikva Israel

10. Pediatric Genetics Unit; Schneider Children's Medical Center of Israel; Petach Tikva Israel

11. Felsenstein Medical Research Center; Rabin Medical Center; Petach Tikva Israel

12. Sackler School of Medicine; Tel Aviv University; Tel Aviv Israel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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2. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome;Basel-Vanagaite;The American Journal of Human Genetics,2012

3. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations;Basel-Vanagaite;Human Genetics,2014

4. Kaufman oculocerebrofacial syndrome in a girl of 15 years;Briscioli;The American Journal of Human Genetics,1995

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