Article
Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene.
Molecular genetics & genomic medicine - 1 May 2022
Markova Tatiana Vladimirovna, Kenis Vladimir, Melchenko Evgeniy, Guseva Darya, Osipova Darya, Galeeva Nailya, Nagornova Tatiana, Dadali Elena Leonidovna
Abstract excerpt
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. Radiographic features include acro-osteolysis of the distal phalanges in association with sclerosing bone lesions with multiple...
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