A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis
| العنوان: | A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis |
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| المؤلفون: | Mousty, Eve, Issa, Sarah, Grosjean, Frédéric, Col, Jean-Yves, Khau van Kien, Philippe, Perez, Marie-Josée, Petrov, Yuliya, Reboul, Dorothée, Faubert, Emmanuelle, Le Gac, Marie-Pascale, Bondurand, Nadège, Chiesa, Jean, Pingault, Véronique |
| المساهمون: | Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Centre Hospitalier Henri Duffaut (Avignon), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut des Biomolécules Max Mousseron [Pôle Chimie Balard] (IBMM), Ecole Nationale Supérieure de Chimie de Montpellier (ENSCM)-Institut de Chimie du CNRS (INC)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Herrada, Anthony |
| المصدر: | Prenatal Diagnosis Prenatal Diagnosis, 2015, 35 (13), pp.1379-1381. ⟨10.1002/pd.4703⟩ Prenatal Diagnosis, Wiley, 2015, 35 (13), pp.1379-1381. ⟨10.1002/pd.4703⟩ |
| بيانات النشر: | HAL CCSD, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | MESH: Waardenburg Syndrome, MESH: Humans, MESH: Pregnancy, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, MESH: Young Adult, MESH: Nuchal Translucency Measurement, MESH: PAX3 Transcription Factor, MESH: Paired Box Transcription Factors, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, MESH: Homozygote |
| الوصف: | International audience; What's already known about this topic? Waardenburg syndrome is a form of deafness associated with pigmentation abnormalities, two features that cannot been diagnosed in a fetus. Musculoskeletal abnormalities of the upper limbs are associated in Waardenburg syndrome type III (WS3).What does this study add? We document two cases of WS3 diagnosed at first trimester of pregnancy, because of a homozygous mutation in PAX3. Ultrasound examinations revealed increased nuchal translucency, lack of active movements, bilateral club hands and club feet, and neural abnormalities. |
| اللغة: | English |
| تدمد: | 0197-3851 1097-0223 |
| DOI: | 10.1002/pd.4703⟩ |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1bc257d79efd17617aee2852737e099d https://hal.umontpellier.fr/hal-03579374 |
| رقم الانضمام: | edsair.dedup.wf.001..1bc257d79efd17617aee2852737e099d |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 01973851 10970223 |
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| DOI: | 10.1002/pd.4703⟩ |