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Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype.
Galarreta, Carolina I; Kennedy, Colleen; Blair, David R; Slavotinek, Anne.
Affiliation
  • Galarreta CI; Medical Genetics and Metabolism Department, Valley Children's Hospital, Madera, California, USA.
  • Kennedy C; Medical Genetics and Metabolism Department, Valley Children's Hospital, Madera, California, USA.
  • Blair DR; Department of Pediatrics, Division of Genetics, University of California, San Francisco, California, USA.
  • Slavotinek A; Department of Pediatrics, Division of Genetics, University of California, San Francisco, California, USA.
Am J Med Genet A ; 188(9): 2724-2731, 2022 09.
Article in En | MEDLINE | ID: mdl-35770347
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dwarfism / Musculoskeletal Abnormalities Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dwarfism / Musculoskeletal Abnormalities Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States