A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.

Abstract

Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive multisystemic disorder that is marked by hypogonadism, alopecia, intellectual disability, deafness, diabetes mellitus and progressive extrapyramidal defects. Mutations in the gene C2orf37 are the cause of Woodhouse-Sakati syndrome. In the present study, a four-generation consanguineous family… (More)
DOI: 10.1016/j.gene.2011.09.002

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@article{Habib2011ANS, title={A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.}, author={Rabia Habib and Sulman Basit and Saadullah Khan and Muhammad Nasim Khan and Wasim Ahmad}, journal={Gene}, year={2011}, volume={490 1-2}, pages={26-31} }