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Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.
Busa, Tiffany; Jeraiby, Mohammed; Clémenson, Alix; Manouvrier, Sylvie; Granados, Viviana; Philip, Nicole; Touraine, Renaud.
Affiliation
  • Busa T; Unité de génétique clinique, APHM, CHU Timone-Enfants, Marseille, France.
  • Jeraiby M; Service de Génétique Clinique, Chromosomique et Moléculaire, CHU-Hôpital Nord, Saint Etienne, France.
  • Clémenson A; Service d'Anatomie et Cytologie Pathologiques, CHU-Hôpital Nord, Saint Etienne, France.
  • Manouvrier S; Service de Génétique médicale, Hôpital Jeanne de Flandre, CHRU de Lille, Lille, France.
  • Granados V; Service de Génétique Clinique, Chromosomique et Moléculaire, CHU-Hôpital Nord, Saint Etienne, France.
  • Philip N; Unité de génétique clinique, APHM, CHU Timone-Enfants, Marseille, France.
  • Touraine R; Service de Génétique Clinique, Chromosomique et Moléculaire, CHU-Hôpital Nord, Saint Etienne, France.
Am J Med Genet A ; 173(11): 3114-3117, 2017 Nov.
Article in En | MEDLINE | ID: mdl-28940926
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Abnormalities / Cleft Lip / Cleft Palate / Protein Serine-Threonine Kinases / Syndactyly / Eyelid Diseases / Hair Diseases / Knee / Language Development Disorders / Nails, Malformed Type of study: Diagnostic_studies / Prognostic_studies Limits: Child, preschool / Female / Humans / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: France Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Eye Abnormalities / Cleft Lip / Cleft Palate / Protein Serine-Threonine Kinases / Syndactyly / Eyelid Diseases / Hair Diseases / Knee / Language Development Disorders / Nails, Malformed Type of study: Diagnostic_studies / Prognostic_studies Limits: Child, preschool / Female / Humans / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: France Country of publication: United States