Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report-Reference-Cited by-同舟云学术

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Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report

Published:2018-01-17 Issue:2 Volume:6 Page:420-425
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Hofstaetter Cornelia¹^ORCID,Courage Carolina²³,Bartholdi Deborah²,Biskup Saskia⁴,Raio Luigi¹

Affiliation:

1. Department of Obstetrics & Gynecology; Inselspital; University of Bern; Switzerland

2. Division of Human Genetics; Department of Pediatrics; Inselspital; University of Bern; Switzerland

3. The Folkhälsan Institute of Genetics; University of Helsinki; Helsinki Finland

4. Praxis für Humangenetik; Paul-Ehrlich-Strasse 22 DE 72076 Tübingen Germany

Funder

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

General Medicine

Reference9 articles.

1. A newly recognized autosomal recessive syndrome with abnormal vertebral ossification, rib abnormalities and nephrogenic rests;Prefumo;Am. J. Med. Genet.,2003

2. Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis;Gonzales;Am. J. Med. Genet.,2005

3. Diaphanospondylodysostosis. Six new cases and exclusion of the candidate genes, PAX1 and MEOX1;Vatnavicharn;Am. J. Med. Genet. Part A,2007

4. BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing;Funari;Am. J. Human Genet.,2010

5. A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD);Ben-Neriah;Am. J. Med. Genet. Part A,2011

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review;European Journal of Medical Genetics;2022-04

2. Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the BMPER Gene: A Case Report;Diagnostics;2022-03-03

3. Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation;Pediatric and Developmental Pathology;2021-12-08

4. Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process;Molecular Genetics & Genomic Medicine;2021-07-20

5. Bmper is required for morphogenesis of the anterior and posterior semicircular canal ducts in the developing zebrafish inner ear;2021-06-27

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