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

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. Radiographi...

Descripción completa

Detalles Bibliográficos
Autores principales: Markova, Tatiana Vladimirovna, Kenis, Vladimir, Melchenko, Evgeniy, Guseva, Darya, Osipova, Darya, Galeeva, Nailya, Nagornova, Tatiana, Dadali, Elena Leonidovna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034671/
https://www.ncbi.nlm.nih.gov/pubmed/35315254
http://dx.doi.org/10.1002/mgg3.1904

Ejemplares similares

Ejemplares similares