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

Markova, TV; Kenis, V; Melchenko, E; Guseva, D; Osipova, D; Galeeva, N; Nagornova, T; Dadali, EL

Markova, TV (通讯作者)，Res Ctr Med Genet, Genet Counselling, Moskvorechye St 1, Moscow 115522, Russia.

MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (5):

Abstract

Background: Pycnodysostosis (PD, OMIM # 265800) is a rare variant of skeletal dysplasia with an autosomal recessive type of inheritance, characterized......

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