My first scientific paper!

My first scientific paper has been published in BMC Medical Genetics and is freely available over here! I did the molecular work as a minor part of my MSc thesis, which concerns connexin deafness in Black Africans. This paper describes two Cameroonian patients with keratitus-icthyosis-deafness (KID), a rare form of syndromic deafness. This is the first time KID has been described in sub-Saharan Africa and we show that it’s caused by the same mutation as in most other described cases. This is very different to non-syndromic deafness but that will be explained in a future paper which will present a much larger portion of my MSc work.

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