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Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
Garza Flores, Alexandra; Nordgren, Ida; Pettersson, Maria; Dias-Santagata, Dora; Nilsson, Daniel; Hammarsjö, Anna; Lindstrand, Anna; Batkovskyte, Dominyka; Wiggs, Janey; Walton, David S; Goldenberg, Paula; Eisfeldt, Jesper; Lin, Angela E; Lachman, Ralph S; Nishimura, Gen; Grigelioniene, Giedre.
Afiliação
  • Garza Flores A; Medical Genetics, Mass General for Children, Boston, MA, United States.
  • Nordgren I; Genetics Department, Cook Children´s Hospital, Fort Worth, TX, United States.
  • Pettersson M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Dias-Santagata D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Nilsson D; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Hammarsjö A; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, United States.
  • Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Batkovskyte D; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Wiggs J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Walton DS; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Goldenberg P; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Eisfeldt J; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Lin AE; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Lachman RS; Department of Ophthalmology, Ocular Genomics Institute, Mass Eye and Ear Infirmary, Harvard Medical School, Boston, MA, United States.
  • Nishimura G; Department of Ophthalmology, Harvard Medical School, Boston, MA, United States.
  • Grigelioniene G; Medical Genetics, Mass General for Children, Boston, MA, United States.
Front Genet ; 14: 1174046, 2023.
Article em En | MEDLINE | ID: mdl-37424725
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies 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 Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article