Grange syndrome

Definition:

Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. It has been reported that mutations in YY1AP1 lead to Grange syndrome.

References:

[1]. Dong-Chuan Guo, et al. Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. Am J Hum Genet. 2017 Jan 5;100(1):21-30. [Content Brief]

[2]. Robert Wallerstein, et al. A new case of Grange syndrome without cardiac findings. Am J Med Genet A. 2006 Jun 15;140(12):1316-20. [Content Brief]

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