Article
Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
Archives of disease in childhood - 1 Feb 2015
Dentici Maria Lisa, Di Pede Alessandra, Lepri Francesca Romana, Gnazzo Maria, Lombardi Mary Haywood, Auriti Cinzia, Petrocchi Stefano, Pisaneschi Elisa, Bellacchio Emanuele, Capolino Rossella, Braguglia Annabella, Angioni Adriano, Dotta Andrea, Digilio Maria Cristina, Dallapiccola Bruno
Abstract excerpt
OBJECTIVE: To review the clinical and molecular genetic characteristics of 16 patients presenting a suspected diagnosis of Kabuki syndrome (KS) in the first year of life, to evaluate the clinical handles leading to a prompt diagnosis of KS in newborns. Clinical diagnosis of KS can be challenging during the first year of life, as many diagnostic features become evident only in subsequent years. METHODS: All...
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