Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Magalie Lodin"'
Autor:
Magalie, Lodin, Galimand, Julie, Dastot - Le Moal, Florence, Copin, Bruno, Mercier, Sandra, Lucile, Pinson, Collot, Nathalie, Giurgea, Irina, Amselem, Serge, Legendre, Marie
Publikováno v:
European Society of Human Genetics
European Society of Human Genetics, Jun 2022, Vienne, Austria
European Society of Human Genetics, Jun 2022, Vienne, Austria
International audience; Background/Objectives:Van der Woude syndrome (VWS, MIM 119300) is an autosomal dominant cleft lip and/or palate with typical lower lip pits. Most patients carry loss-of-function mutations in IRF6. Upstream open reading frame (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9a362548c78708c89f3439edfef541e1
https://www.hal.inserm.fr/inserm-03922101
https://www.hal.inserm.fr/inserm-03922101
Autor:
Soraya Sakhi, Magalie Lodin, Marie-Liesse Étienne, Khadija Ouaziz, Mathilde Filser, Amandine François, Amandine Caillault, Lamia Rouabah, Zoé Guilbert, Margaux Cadenet, Morgane Ducastel, Mathilda Bastide, Emilie Guemas, Julie Brousseau, Mathilde Puel, Pierre Jatteau, Bérénice Schell, Mathilde Roche
Publikováno v:
Annales de biologie clinique.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38f5f02354dab0e7bd3e28016b094e56
https://pubmed.ncbi.nlm.nih.gov/34170254
https://pubmed.ncbi.nlm.nih.gov/34170254
