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

Krystal Jones MasseyAnnika Silfvast-KaiserDavid R LeakeLucia Z DiazMoise L Levy

Published in: Pediatric dermatology (2018)

Adams-Oliver syndrome (AOS) is a multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLDs). 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.

Keyphrases

case report
early onset
genome wide
copy number
intellectual disability
gene expression
autism spectrum disorder
transcription factor
genome wide identification