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Article

Clinical and genetic evaluation of Danish patients with pycnodysostosis.

European journal of medical genetics - 1 Feb 2021

Doherty Mia Aa, Langdahl Bente L, Vogel Ida, Haagerup Annette

Abstract excerpt

BACKGROUND: Pycnodysostosis is a rare autosomal recessive osteosclerotic skeletal dysplasia caused by variants in the cathepsin K gene (CTSK). Clinical features include short stature, bone fragility, characteristic facial features and acro-osteolysis of the distal phalanges. Usually, patients suffer from multiple bone fractures. The purpose of this study was to describe the Danish population of pycnodysostosis...

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Identifiers

PMID: 33429075
DOI: 10.1016/j.ejmg.2021.104135

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