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A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Keehan, Laura; Jiang, Ming-Ming; Li, Xiaohui; Marom, Ronit; Dai, Hongzheng; Murdock, David; Liu, Pengfei; Hunter, Jill V; Heaney, Jason D; Robak, Laurie; Emrick, Lisa; Lotze, Timothy; Blieden, Lauren S; Lewis, Richard Alan; Levin, Alex V; Capasso, Jenina; Craigen, William J; Rosenfeld, Jill A; Lee, Brendan; Burrage, Lindsay C.
Affiliation
  • Keehan L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Jiang MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Li X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Dai H; Texas Children's Hospital, Houston, Texas, USA.
  • Murdock D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Liu P; Baylor Genetics, Houston, Texas, USA.
  • Hunter JV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Heaney JD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Robak L; Baylor Genetics, Houston, Texas, USA.
  • Emrick L; Texas Children's Hospital, Houston, Texas, USA.
  • Lotze T; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA.
  • Blieden LS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Lewis RA; Texas Children's Hospital, Houston, Texas, USA.
  • Levin AV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Capasso J; Texas Children's Hospital, Houston, Texas, USA.
  • Craigen WJ; Department of Pediatrics, Baylor College of Medicine (BCM), Houston, Texas, USA.
  • Rosenfeld JA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, BCM, Houston, Texas, USA.
  • Lee B; Texas Children's Hospital, Houston, Texas, USA.
  • Burrage LC; Department of Pediatrics, Baylor College of Medicine (BCM), Houston, Texas, USA.
Am J Med Genet A ; 185(8): 2315-2324, 2021 08.
Article in En | MEDLINE | ID: mdl-33949769
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Introns / Aniridia / Cerebellar Ataxia / Genetic Predisposition to Disease / Inositol 1,4,5-Trisphosphate Receptors / Genetic Association Studies / Intellectual Disability / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Child, preschool / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Introns / Aniridia / Cerebellar Ataxia / Genetic Predisposition to Disease / Inositol 1,4,5-Trisphosphate Receptors / Genetic Association Studies / Intellectual Disability / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Child, preschool / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos