Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

Autor: Véronique David, Daniel E. Pineda-Alvarez, Christèle Dubourg, Erich Roessler, Maximilian Muenke

Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Wiley, 2010, 154C (1), pp.93-101. ⟨10.1002/ajmg.c.30253⟩
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010, 154C (1), pp.93-101. ⟨10.1002/ajmg.c.30253⟩

International audience; Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans and is typically characterized by different degrees of hemispheric separation that are often accompanied by similarly var

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c437d4093802a3fd595091a87edd2f68
https://www.hal.inserm.fr/inserm-00462036/document

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