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A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX.
Yavuz Saricay, Leyla; Hoyek, Sandra; Ashit Parikh, Ayush; Baldwin, Grace; Bodamer, Olaf A; Gonzalez, Efren; Patel, Nimesh A.
Afiliação
  • Yavuz Saricay L; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Hoyek S; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.
  • Ashit Parikh A; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.
  • Baldwin G; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Bodamer OA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Gonzalez E; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Patel NA; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Ophthalmic Genet ; 44(6): 591-594, 2023 Dec.
Article em En | MEDLINE | ID: mdl-36728747
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Síndrome de Aicardi Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espasmos Infantis / Síndrome de Aicardi Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article