Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome
نویسندگان
چکیده
منابع مشابه
Parent-of-origin effects in SOX2 anophthalmia syndrome
PURPOSE Sex determining region Y (SRY)-box 2 (SOX2) anophthalmia syndrome is an autosomal dominant disorder manifesting as severe developmental eye malformations associated with brain, esophageal, genital, and kidney abnormalities. The syndrome is usually caused by de novo mutations or deletions in the transcription factor SOX2. To investigate any potential parental susceptibility factors, we s...
متن کاملSOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?
To the Editor : Heterozygous, loss of function mutations in the high mobility group (HMG) gene, SOX2 , encoding the sex-determining region Y-box 2 (MIM 184429) protein, lead to severe developmental eye and brain malformations, and some anophthalmos-esophagealgenital syndrome cases (1). However, the fate of these cases into adulthood is unknown. We report an adult with SOX2 anophthalmia syndrome...
متن کاملMutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
We report heterozygous, loss-of-function SOX2 mutations in three unrelated individuals with Anophthalmia-Esophageal-Genital (AEG) syndrome. One previously reported case [Rogers, R.C. (1988) Unknown cases. Proceedings of the Greenwood Genetic Center. 7, 57.] has a 2.7 Mb deletion encompassing SOX2 and associated with a cryptic translocation t(3;7)(q28;p21.3). The deletion and translocation break...
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An unusual cause of spontaneous pneumothorax: the Mounier-Kuhn syndrome.
We present the case of a 54-year old woman referred to our service with an unusual presentation of an under-diagnosed condition. A life-long non-smoker, she was referred to respiratory services by our emergency department with a left sided pneumothorax, progressive dyspnoea on exertion, and recurrent chest infections. Subsequent investigation yielded findings consistent with Mounier-Kuhn syndro...
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ژورنال
عنوان ژورنال: Annals of Indian Academy of Neurology
سال: 2013
ISSN: 0972-2327
DOI: 10.4103/0972-2327.116924