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

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

Abstract Background Pycnodysostosis (PD, OMIM # 265800) is a rare variant of skeletal dysplasia with an autosomal recessive type of inheritance, characterized by a combination of specific features such as disproportionate nanism, generalized osteosclerosis, and distinct craniofacial dysmorphism. Rad...

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Bibliographic Details
Main Authors: Tatiana Vladimirovna Markova, Vladimir Kenis, Evgeniy Melchenko, Darya Guseva, Darya Osipova, Nailya Galeeva, Tatiana Nagornova, Elena Leonidovna Dadali
Format: Article
Language:English
Published: Wiley 2022-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CTSK gene
pycnodysostosis
skeletal dysplasia
Online Access:https://doi.org/10.1002/mgg3.1904

Internet

https://doi.org/10.1002/mgg3.1904

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