Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor

Shambhavi, A; Salian, S; Shah, H; Nair, M; Sharan, K; Jin, DK; Cho, SY; Mathew, M; Shukla, A; Girisha, KM

Girisha, KM (reprint author), Manipal Univ, Dept Med Genet, Kasturba Med Coll, Manipal 576104, Karnataka, India.

JOURNAL OF PEDIATRIC GENETICS, 2018; 7 (1): 9

Abstract

Pycnodysostosis is an autosomal recessive skeletal dysplasia caused by pathogenic variants in the cathepsin K (CTSK) gene. We report seven patients fr......

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