Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene-Reference-Cited by-同舟云学术

Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene

Published:2022-03-21 Issue:5 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Markova Tatiana Vladimirovna¹^ORCID,Kenis Vladimir²,Melchenko Evgeniy²,Guseva Darya¹,Osipova Darya¹^ORCID,Galeeva Nailya¹,Nagornova Tatiana¹,Dadali Elena Leonidovna¹

Affiliation:

1. Research Centre for Medical Genetics Moscow Russia

2. H.Turner National Medical Research Center for Сhildren's Orthopedics and Trauma Surgery Pushkin Russia

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1904

Reference20 articles.

1. Clinical and radiographic maxillofacial features of pycnodysostosis;Alves N.;International Journal of Clinical and Experimental Medicine,2014

2. Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region

3. Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

4. Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

5. Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis

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