The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

Abstract Background The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate voluntary eye movements performing rapid gaze shift, so called saccades. While regarded as a nosological entity by some authors, there is growing evidence that COMA des...

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Dades bibliogràfiques

Autors principals:	Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2023-05-01
Col·lecció:	Orphanet Journal of Rare Diseases
Matèries:	Congenital ocular motor apraxia Cogan syndrome Joubert syndrome Molar tooth sign Ciliopathy Poretti–Boltshauser syndrome
Accés en línia:	https://doi.org/10.1186/s13023-023-02706-5
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