Article
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
American journal of medical genetics. Part A - 1 Sept 2018
De Bernardi Margherita Lucia, Ivanovski Ivan, Caraffi Stefano Giuseppe, Maini Ilenia, Street Maria Elisabeth, Bayat Allan, Zollino Marcella, Lepri Francesca Romana, Gnazzo Maria, Errichiello Edoardo, Superti-Furga Andrea, Garavelli Livia
Abstract excerpt
KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11, one of the ankyrin repeat-containing cofactors. After the advent of whole exome sequencing, the number of clinical reports with KBG diagnosis has increased, leading to a revision of the phenotypic spectrum associated with this syndrome. Here, we report a female...
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