Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.03.023
Abstract: INTRODUCTION Adams-Oliver syndrome (AOS) is a rare developmental disorder characterized by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects. DOCK6 (Dedicator of cytokinesis 6) is one of the… read more here.
Keywords: oliver syndrome; novel compound; heterozygous mutations; adams oliver ... See more keywords
Adams-Oliver Syndrome: Vestigial Tail and Genetics Update
Sign Up to like & getrecommendations! Published in 2022 at "Archives of Plastic Surgery"
DOI: 10.1055/s-0042-1751107
Abstract: Adams-Oliver syndrome is a well-recognized autosomal dominant disorder for which mutations in six genes are etiologic, but account for only one-third of the cases. We report a patient with two genetic disorders; Adams-Oliver and Xp22.33… read more here.
Keywords: vestigial tail; syndrome vestigial; oliver syndrome; adams oliver ... See more keywords
Severe Adams-Oliver Syndrome after Maternal COVID-19 Infection Could Be Another Effect of the SARS-CoV-2 Inflammatory Storm? Case Report
Sign Up to like & getrecommendations! Published in 2022 at "Fetal and Pediatric Pathology"
DOI: 10.1080/15513815.2022.2064018
Abstract: Abstract Background. Adams-Oliver syndrome is a congenital disease whose main findings are aplasia cutis congenita of the scalp and terminal transverse limb defects. The pathogenesis is unknown, but it is postulated that ischemic events in… read more here.
Keywords: case report; adams oliver; oliver syndrome; sars cov ... See more keywords
Adams-Oliver Syndrome With Moyamoya Disease for Cerebral Revascularisation Surgery.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurosurgical Anesthesiology"
DOI: 10.1097/ana.0000000000000467
Abstract: with transcranial Doppler thrice a day which showed normal mean flow velocities. On the third postoperative day, the patient developed paraparesis in lower limbs (power 3/5). Transcranial Doppler showed mild increase in right ACA velocities… read more here.
Keywords: patient; adams oliver; syndrome moyamoya; disease cerebral ... See more keywords
Atypical Adams-Oliver syndrome with typical ocular signs of familial exudative vitreoretinopathy.
Sign Up to like & getrecommendations! Published in 2022 at "International journal of ophthalmology"
DOI: 10.18240/ijo.2022.08.04
Abstract: AIM To report an atypical Adams-Oliver syndrome (AOS) family with typical ocular signs of familial exudative vitreoretinopathy (FEVR). METHODS A patient with visible avascular area and obvious non-perfusion zone in the peripheral retina with systemic… read more here.
Keywords: ocular signs; typical ocular; oliver syndrome; atypical adams ... See more keywords