KBG syndrome: case report of a novel variant ANKR11 gene mutation and literature review.

Sestito Simona; Petrisano Mirella; Crispino Antonio Alessandro; Tallarico Valeria; Pensabene Licia; Daniela Concolino

doi:10.22541/au.164503330.07786520/v1

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KBG syndrome: case report of a novel variant ANKR11 gene mutation and literature review.

Sestito Simona,
Petrisano Mirella,
Crispino Antonio Alessandro,
Tallarico Valeria,
Pensabene Licia,
Daniela Concolino

Abstract

KBG is a rare genetic disorder that occurs from the ANKRD11 gene mutation. The clinical phenotype of the patients is characterized by dysmorphic features, short stature, intellectual disability and global developmental delay, but may be not present at the first examination. We describe a novel variant ANKRD11 gene mutation.