Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder-Reference-Cited by-同舟云学术

Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder

Published:2019-03 Issue:3 Volume:62 Page:167-171
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Greenbaum Lior,Gilboa Yinon,Raas-Rothschild Annick,Barel Ortal,Kol Nitzan,Reznik-Wolf Haike,Pode-Shakked Ben,Finezilber Yael,Messing Baruch,Berkenstadt Michal

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference25 articles.

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

2. Promises, pitfalls and practicalities of prenatal exome sequencing;Best;Prenat. Diagn.,2018

3. Fetal skeletal dysplasia: an approach to diagnosis with illustrative cases;Dighe;Radiographics,2008

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

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

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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