Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

Autor: Chassaing, N., Causse, A., Vigouroux, A., Delahayes, A., Alessandri, J.-L., Boespflug-Tanguy, O., Boute-Benejean, O., Dollfus, H., Duban-Bedu, B., Gilbert-Dussardier, B., Giuliano, F., Gonzales, M., Holder-Espinasse, M., Isidor, B., Jacquemont, M.-L., Lacombe, D., Martin-Coignard, D., Mathieu-Dramard, M., Odent, S., Picone, O., Pinson, L., Quelin, C., Sigaudy, Sabine, Toutain, A., Thauvin-Robinet, C., Kaplan, Josseline, Calvas, Patrick

Publikováno v: Clinical Genetics
Clinical Genetics, Wiley, 2014, 86 (4), pp.326-334. ⟨10.1111/cge.12275⟩
Clinical Genetics, Wiley, 2014, 86 (4), pp.326--334. ⟨10.1111/cge.12275⟩
Clinical Genetics, 2014, 86 (4), pp.326-334. ⟨10.1111/cge.12275⟩
Clinical Genetics, Wiley, 2014, 86 (4), pp.326--334. 〈10.1111/cge.12275〉

International audience; Anophthalmia and microphthalmia (AM) are the most severe malformations of the eye, corresponding respectively to reduced size or absent ocular globe. Wide genetic heterogeneity has been reported and different genes have been d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4aacf8c5d4d2e23e38ea8b0dc8884cb8
https://hal.archives-ouvertes.fr/hal-01064928