Keipert syndrome

Definition:

Keipert syndrome is a rare, X-linked disorder characterized by craniofacial and digital abnormalities and variable learning difficulties and sensorineural deafness. It has been reported that pathogenic variants in GPC4 cause this disease.

References:

[1]. David J Amor, et al. Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28. Am J Med Genet A. 2007 Oct 1;143A(19):2236-41. [Content Brief]

[2]. David J Amor, et al. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019 May 2;104(5):914-924. [Content Brief]

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