Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in theSF3B4gene-Reference-Cited by-同舟云学术

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in theSF3B4gene

Published:2016-09-19 Issue:12 Volume:170 Page:3133-3137
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Irving Melita D.¹²,Dimitrov Boyan I.²,Wessels Marja³,Holder-Espinasse Muriel¹,Chitayat David⁴⁵,Simpson Michael A.²

Affiliation:

1. Department of Clinical Genetics; Guy's Hospital; London United Kingdom

2. Division of Medical and Molecular Genetics; King's College London; London United Kingdom

3. Department of Obstetrics and Gynaecology; University Dijkzigt; Rotterdam The Netherlands

4. The Prenatal Diagnosis and Medical Genetics Program; Department of Obstetrics and Gynecology; Mount Sinai Hospital; The University of Toronto; Toronto Ontario Canada

5. Division of Clinical and Metabolic Genetics; Department of Pediatrics; The Hospital for Sickkids; University of Toronto; Toronto Ontario Canada

Funder

National Institute for Health Research (NIHR) Biomedical Research Centre based at Guy's and St Thomas' NHS Foundation Trust and King's College London

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome;Bernier;Am J Hum Genet,2012

2. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome;Czeschik;Hum Genet,2013

3. Acrofacial dysostosis type Rodríguez;Dimitrov;Am J Med Genet A,2005

4. Prenatal phenotype of Nager syndrome and Rodriguez syndrome: Variable expression of the same entity;Gana;Clin Dysmorphol,2013

5. The sequence alignment/map format and SAMtools;Li;Bioinformatics,2009

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