title: A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis.
authors.affiliation: Gynécologie Obstétrique, CHRU Caremeau, Nimes, France.
authors.forename: Eve
authors.initials: E
authors.lastname: Mousty
authors.affiliation: INSERM, U955, Equipe 6, Créteil, France.|Université Paris-Est, UMR_S955, UPEC, Créteil, France.
authors.forename: Sarah
authors.initials: S
authors.lastname: Issa
authors.affiliation: Gynécologie Obstétrique, CHRU Caremeau, Nimes, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Grosjean
authors.affiliation: Gynécologie Obstétrique, Centre Hospitalier d'Avignon, Avignon, France.
authors.forename: Jean-Yves
authors.initials: JY
authors.lastname: Col
authors.affiliation: Laboratoire de Cytogénétique et Génétique Médicale, CHRU Caremeau, Nimes, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Khau Van Kien
authors.affiliation: Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, Montpellier, France.
authors.forename: Marie-Josée
authors.initials: MJ
authors.lastname: Perez
authors.affiliation: Laboratoire de Cytogénétique et Génétique Médicale, CHRU Caremeau, Nimes, France.
authors.forename: Yuliya
authors.initials: Y
authors.lastname: Petrov
authors.affiliation: Laboratoire de Cytogénétique et Génétique Médicale, CHRU Caremeau, Nimes, France.
authors.forename: Dorothée
authors.initials: D
authors.lastname: Reboul
authors.affiliation: Hôpital Henri Mondor, AP-HP, Département de Génétique, Créteil, France.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Faubert
authors.affiliation: Gynécologie Obstétrique, CHRU Caremeau, Nimes, France.
authors.forename: Marie-Pascale
authors.initials: MP
authors.lastname: Le Gac
authors.affiliation: INSERM, U955, Equipe 6, Créteil, France.|Université Paris-Est, UMR_S955, UPEC, Créteil, France.
authors.forename: Nadège
authors.initials: N
authors.lastname: Bondurand
authors.affiliation: Laboratoire de Cytogénétique et Génétique Médicale, CHRU Caremeau, Nimes, France.
authors.forename: Jean
authors.initials: J
authors.lastname: Chiesa
authors.affiliation: INSERM, U955, Equipe 6, Créteil, France.|Université Paris-Est, UMR_S955, UPEC, Créteil, France.|Hôpital Henri Mondor, AP-HP, Département de Génétique, Créteil, France.
authors.forename: Véronique
authors.initials: V
authors.lastname: Pingault
mesh_terms: D005260:Female; D006720:Homozygote; D006801:Humans; D048208:Nuchal Translucency Measurement; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D011247:Pregnancy; D014849:Waardenburg Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D055815:Young Adult
chemical_list: D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors