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TCTN3 mutations cause Mohr-Majewski syndrome.
Thomas, Sophie; Legendre, Marine; Saunier, Sophie; Bessières, Bettina; Alby, Caroline; Bonnière, Maryse; Toutain, Annick; Loeuillet, Laurence; Szymanska, Katarzyna; Jossic, Frédérique; Gaillard, Dominique; Yacoubi, Mohamed Tahar; Mougou-Zerelli, Soumaya; David, Albert; Barthez, Marie-Anne; Ville, Yves; Bole-Feysot, Christine; Nitschke, Patrick; Lyonnet, Stanislas; Munnich, Arnold; Johnson, Colin A; Encha-Razavi, Férechté; Cormier-Daire, Valérie; Thauvin-Robinet, Christel; Vekemans, Michel; Attié-Bitach, Tania.
Affiliation
  • Thomas S; INSERM U781, Hôpital Necker-Enfants Malades, 75015 Paris, France; Université Paris Descartes, 75006 Paris Sorbonne, France.
Am J Hum Genet ; 91(2): 372-8, 2012 Aug 10.
Article in En | MEDLINE | ID: mdl-22883145
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Full text: 1 Database: MEDLINE Main subject: Orofaciodigital Syndromes / Phenotype / Foot Deformities, Congenital / Hand Deformities, Congenital / Cleft Palate / Intracellular Signaling Peptides and Proteins / Membrane Proteins Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Humans Language: En Year: 2012 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Orofaciodigital Syndromes / Phenotype / Foot Deformities, Congenital / Hand Deformities, Congenital / Cleft Palate / Intracellular Signaling Peptides and Proteins / Membrane Proteins Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Humans Language: En Year: 2012 Type: Article