Article
Growth charts in Cockayne syndrome type 1 and type 2.
European journal of medical genetics - 1 Jan 2021
Baer Sarah, Tuzin Nicolas, Kang Peter B, Mohammed Shehla, Kubota Masaya, van Ierland Yvette, Busa Tiffany, Rossi Massimiliano, Morel Godelieve, Michot Caroline, Baujat Geneviève, Durand Myriam, Obringer Cathy, Le May Nicolas, Calmels Nadège, Laugel Vincent
Abstract excerpt
Cockayne syndrome (CS) is a multisystem degenerative disorder divided in 3 overlapping subtypes, with a continuous phenotypic spectrum: CS2 being the most severe form, CS1 the classical form and CS3 the late-onset form. Failure to thrive and growth difficulties are among the most consistent features of CS, leaving affected individuals vulnerable to numerous medical complications, including adverse effects of...
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