Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Francois D. Jacob"'
Publikováno v:
Case Reports in Neurological Medicine, Vol 2016 (2016)
Introduction. Acute complete external ophthalmoplegia is a rare finding in clinical practice that is associated with diseases affecting the neuromuscular junction, the oculomotor nerves, or the brainstem. Ophthalmoplegia has been reported with acute
Externí odkaz:
https://doaj.org/article/d84809dac0a94fcb926f7e226bbd7a04
Publikováno v:
Clinical Dysmorphology. 18:103-106
Trisomy 9p is a well-described dysmorphic syndrome. The physical features include hypertelorism, down-slanting palpebral fissures, deep-set eyes, down-turned corners of the mouth, and mild skeletal anomalies including hypoplastic terminal phalanges.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bf9a6755fb1fe01c76501fd124d8fc0
https://doi.org/10.1097/mcd.0b013e328325ee66
https://doi.org/10.1097/mcd.0b013e328325ee66
Autor:
Omar Khwaja, Eugenia Ho, Mayra Martinez-Ojeda, Francois D. Jacob, Alcy Torres, Basil T. Darras
Publikováno v:
Neurology. 78:P02.174-P02.174
Objective: To describe a girl with infantile onset of Spinocerebellar Ataxia Type 5 and novel SPTBN2 mutation. Background Dominant spinocerebellar ataxias (SCA) are a rare clinically and genetically heterogeneous group of neurodegenerative disorders.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::adf9f73dc19cfd9c74b50d1d787c12ba
https://doi.org/10.1212/wnl.78.1_meetingabstracts.p02.174
https://doi.org/10.1212/wnl.78.1_meetingabstracts.p02.174