Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process-Reference-Cited by-同舟云学术

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Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process

Published:2021-07-20 Issue:12 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Braun Frederik¹^ORCID,Gangfuß Andrea¹^ORCID,Stöbe Petra²,Haack Tobias B.²³,Schweiger Bernd⁴,Roos Andreas¹,Schara Ulrike¹

Affiliation:

1. Department of Neuropediatrics Essen University Hospital Essen Germany

2. Institute of Medical Genetics and Applied Genomics University of Tuebingen Tübingen Germany

3. Centre for Rare Diseases University of Tuebingen Tübingen Germany

4. Institute for Diagnostic and Interventional Radiology and Neuroradiology Essen University Hospital Essen Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1767

Reference21 articles.

1. A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)

2. Global Disparities in Wilms Tumor

3. BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing

4. Diaphanospondylodysostosis (DSD): Confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis

5. Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder

Cited by 3 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. Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect;Clinical Genetics;2024-09-06

2. A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis;European Journal of Medical Genetics;2024-04

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

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