A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis-Reference-Cited by-同舟云学术

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A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis

Published:2024-04 Issue: Volume:68 Page:104924
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Daşar Tuğba^ORCID,Yıldız Adalet Elçin,Demirkıran Gökhan,Utine Gülen Eda,Şimşek Kiper Pelin Özlem

Publisher

Elsevier BV

Reference19 articles.

1. Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review;Batey;Eur. J. Med. Genet.,2022

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

3. Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process;Braun;Mol Genet Genomic Med,2021

4. BMP antagonists in tissue development and disease;Correns;Matrix Biol.,2021

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

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