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Prenatal diagnosis of congenital perineal lipoma: tip of urorectal septum malformation sequence?

Autor: A. Atallah, S. Cabet, M. Cassart, I. James, P. Gaucherand, L. Guibaud

Publikováno v: Ultrasound in Obstetrics & Gynecology. 60:139-141

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f48443613f0d75b53e94b01936dac51f
https://doi.org/10.1002/uog.24836

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X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant

Autor: Patrick Edery, L. Guibaud, Bénédicte Gérard, Valérie Castellani, Muriel Bozon, Amélie Piton, Renaud Touraine, Pascale Saugier-Veber, Idriss Bousquet, Audrey Putoux, Damien Sanlaville

Publikováno v: neurogenetics. 22:43-51

Pathogenic variants in L1CAM, the gene encoding the L1 cell adhesion molecule, are responsible for a wide clinical spectrum including X-linked hydrocephalus with stenosis of the Sylvius aqueduct, MASA syndrome (mental retardation, aphasia, shuffling

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7bf365be14d91adaf565bb987d983246
https://doi.org/10.1007/s10048-020-00629-y

Normal intellectual skills in patients with Rhombencephalosynapsis

Autor: L. Lion-François, Juan Velazquez-Dominguez, L. Guibaud, Christelle Rougeot-Jung, Hélène Laurichesse Delmas, Emeline Peyric, Vincent des Portes, Massimiliano Rossi, Mona Massoud, Marie-France Bonnetain, O. Revol, Catherine Sarret, Anne Miret

Publikováno v: European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, 2020, 29, pp.92-100. ⟨10.1016/j.ejpn.2020.09.007⟩
European Journal of Paediatric Neurology, Elsevier, 2020, 29, pp.92-100. ⟨10.1016/j.ejpn.2020.09.007⟩

Objectives Rhombencephalosynapsis (RES) is a very rare cerebellar malformation. Neurodevelopmental outcome of apparently isolated RES remains poorly documented and standardized cognitive assessment, reported in only nine published cases so far, is la

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::153e00d3aff3aa7921713468fe2984f3
https://hal.science/hal-03124493