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  • Title: Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.
    Author: Jones KM, Silfvast-Kaiser A, Leake DR, Diaz LZ, Levy ML.
    Journal: Pediatr Dermatol; 2017 Sep; 34(5):e249-e253. PubMed ID: 28884918.
    Abstract:
    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.
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