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Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient.
Vasilyeva, Tatyana A; Sukhanova, Natella V; Marakhonov, Andrey V; Kuzina, Natalia Yu; Shilova, Nadezhda V; Kadyshev, Vitaly V; Kutsev, Sergey I; Zinchenko, Rena A.
Affiliation
  • Vasilyeva TA; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Sukhanova NV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Marakhonov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Kuzina NY; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Shilova NV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Kadyshev VV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Kutsev SI; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Zinchenko RA; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Int J Mol Sci ; 24(21)2023 Oct 24.
Article in En | MEDLINE | ID: mdl-37958513
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aniridia / Down Syndrome Limits: Child / Female / Humans Language: En Journal: Int J Mol Sci Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aniridia / Down Syndrome Limits: Child / Female / Humans Language: En Journal: Int J Mol Sci Year: 2023 Document type: Article Affiliation country: Country of publication: