Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle

Autor:	M. Abu-Eid, F. Veillon, F Bediard Boulaneb, Renaud Quillet, Sophie Riehm, JJ Francfort, Claude Speeg-Schatz, Fabienne Perrin-Schmitt, W Lahlou Boukoffa, Hélène Dollfus, Corinne Stoetzel, Jacques Flament
Rok vydání:	2003
Předmět:	medicine.diagnostic_test business.industry Eye disease Magnetic resonance imaging Anatomy Epicanthus medicine.disease Blepharophimosis medicine.anatomical_structure Ptosis Gene duplication Genetics medicine Eyelid medicine.symptom business Genetics (clinical) Orbit (anatomy)
Zdroj:	Clinical Genetics. 63:117-120
ISSN:	0009-9163
Popis:	The analysis of the FOXL2 gene (3q23) in a series of two families and two sporadic cases affected with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is presented. This study detected two novel FOXL2 mutations (missence and nonsens mutations) and confirmed the recurrence of a previously described duplication. Magnetic Resonance Imaging (MRI) of the orbit, in one family, showed absence or hypotrophy of the eyelid superior levator muscle suggesting a possible role of FOXL2 in the development of this extra-ocular muscle.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::9d30e95727154ca903d92c48f22f8107 https://doi.org/10.1034/j.1399-0004.2003.00011.x Zobrazit plný text záznamu Plný text