Adams –Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations

We present a case of type 2 autosomal recessive AOS associated with heterozygous mutations in the dedicator of cytokinesis 6 (DOCK6) gene, with characteristic findings of ACC, TTLD, intracerebral periventricular calcifications, and polymicrogyria.

Source: Pediatric Dermatology - September 8, 2017 Category: Dermatology Authors: Krystal M. Jones, Annika Silfvast ‐Kaiser, David R. Leake, Lucia Z. Diaz, Moise L. Levy Tags: Case Report Source Type: research