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1. Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy. Issue 10 (11th August 2014)

2. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2. Issue 9 (7th July 2016)

3. PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Issue 2 (14th December 2015)