- ... posted live 2 August 2005 (ivv) Original submission References Literature Cited Aicardi J. Aicardi Syndrome: Old and new findings. Internat Pediatr. 1999;14: ...
- ... disease in the absence of other features of Aicardi-Goutières syndrome. Karla AR, Pinard A, ... 1993] Review Leukodystrophy Overview – RETIRED CHAPTER, ...
- ... View in own window Gene Phenotype 1 TREX1 Aicardi-Goutières ... entry, or cited reference for more information. 2. Pathogenic variants typically affect ...
- ... amplify cGAS-STING... Brain Malformations -- see more articles ... (Medical Encyclopedia) Also in Spanish Topic Image MEDICAL ENCYCLOPEDIA Aicardi syndrome Brain surgery Brain surgery - discharge Head CT scan ...
- ... include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum ... DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: window to the ... CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2005 Apr 18 [updated 2018 Aug 16]. ...
- ... 90%) die in the first year of life. Aicardi syndrome Aicardi syndrome is presumed to be an X-linked condition ... 6, 2003. [ PubMed : 12939582 ] Kamien BA, Gabbett MT: Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration. Am J ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/aicardi-syndrome</url><title >Aicardi syndrome</title><other_names ><other_name >Agenesis of corpus ...
- ... Brain malformation 2 Psychomotor impairment & episodes of seizures Aicardi syndrome ? XL Microphthalmia Pigmentary lesions of the skin In Aicardi syndrome: 3 Agenesis of the corpus callosum Distinctive chorioretinal ...
- ... 8504785 ] 897. Tsao CY, Sommer A, Hamoudi AB. Aicardi syndrome, metastatic angiosarcoma of the leg, and scalp lipoma. ... Kiristioglu I, Kilic N, Gurpinar AN, et al. Aicardi syndrome associated with palatal hemangioma. Eur J Pediatr Surg. ...
- ... et al. Agenesis of the corpus callosum and Aicardi syndrome: a neuroimaging and clinical comparison. Pediatr Neurol. 2017 ... al. Ketogenic diet therapy for epilepsy associated with Aicardi syndrome. J Child Neurol. 2021 Oct;36(11):1007– ...
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