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Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON.

Pediatric dermatology - 1 May 2020

Quintana Castanedo Lucía, Sánchez Orta Alba, Maseda Pedrero Rocío, Santos Simarro Fernando, Palomares Bralo María, Feito Rodríguez Marta, de Lucas Laguna Raúl

Abstract excerpt

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare, severe, and recently described multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability, characteristic facial features, hypotonia, poor overall growth, and visual abnormalities. Mucocutaneous manifestations have not been reported so far among individuals with ZTTK syndrome. Herein, we present a patient...

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PMID: 32045494
DOI: 10.1111/pde.14113

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