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A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn, P; Prigatano, G P; Szelinger, S; Roth, J; Siniard, A L; Claasen, A M; Richholt, R F; De Both, M; Corneveaux, J J; Moskowitz, A M; Balak, C; Piras, I S; Russell, M; Courtright, A L; Belnap, N; Rangasamy, S; Ramsey, K; Opitz, J M; Craig, D W; Narayanan, V; Huentelman, M J; Schrauwen, I.
Affiliation
  • Dunn P; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Prigatano GP; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona.
  • Szelinger S; Department of Clinical Neuropsychology, Barrow Neurological Institute, Dignity Health St Joseph's Hospital and Medical Center, Phoenix, Arizona.
  • Roth J; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Siniard AL; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona.
  • Claasen AM; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Richholt RF; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona.
  • De Both M; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Corneveaux JJ; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona.
  • Moskowitz AM; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Balak C; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona.
  • Piras IS; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Russell M; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona.
  • Courtright AL; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Belnap N; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona.
  • Rangasamy S; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Ramsey K; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona.
  • Opitz JM; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Craig DW; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona.
  • Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
  • Huentelman MJ; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona.
  • Schrauwen I; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
Am J Med Genet A ; 173(3): 611-617, 2017 Mar.
Article de En | MEDLINE | ID: mdl-28139025
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Imperforation anale / Constipation / Nystagmus congénital / Sites d'épissage d'ARN / Retard mental lié à l'X / Guanylate kinase / Agénésie du corps calleux / Hypotonie musculaire / Mutation Type d'étude: Diagnostic_studies / Etiology_studies / Prognostic_studies Limites: Adolescent / Child / Child, preschool / Female / Humans / Male Langue: En Journal: Am J Med Genet A Sujet du journal: GENETICA MEDICA Année: 2017 Type de document: Article Pays de publication: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Imperforation anale / Constipation / Nystagmus congénital / Sites d'épissage d'ARN / Retard mental lié à l'X / Guanylate kinase / Agénésie du corps calleux / Hypotonie musculaire / Mutation Type d'étude: Diagnostic_studies / Etiology_studies / Prognostic_studies Limites: Adolescent / Child / Child, preschool / Female / Humans / Male Langue: En Journal: Am J Med Genet A Sujet du journal: GENETICA MEDICA Année: 2017 Type de document: Article Pays de publication: États-Unis d'Amérique