Rare diseases - a shortlist of interesting articles

Interested in learning about rare genetic disorders? 

I've written on a few of them over at Medium in the last few months. You can find them in the Rare Disease section of the Maeflowers pub or click the links below.

First there was acrocephalosyndactyly type 1 - or Apert Syndrome. It's premature fusion of the bones caused by an autosomal dominant mutation.

Then I wrote about monosomy 9p, also known as Alfi's syndrome. And the rather recently recognized Loeys-Dietz syndrome.

Finally, in recent months, I've also written about the causes of Aicardi Syndrome, a rare genetic disorder that results in parts of the brain not properly forming.

Underside of the brain. Gray’s Anatomy. Public Domain.