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De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype.
Safgren, Stephanie L; Olson, Rory J; Pinto E Vairo, Filippo; Bothun, Erick D; Hanna, Christian; Klee, Eric W; Schimmenti, Lisa A.
  • Safgren SL; Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, Minnesota, USA.
  • Olson RJ; Center of Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • Pinto E Vairo F; Center of Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.
  • Bothun ED; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
  • Hanna C; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.
  • Klee EW; Department of Pediatric Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.
  • Schimmenti LA; Department of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, Minnesota, USA.
Am J Med Genet A ; 188(3): 919-925, 2022 03.
Article en En | MEDLINE | ID: mdl-34797033
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sistema Urinario / Glaucoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant / Male Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sistema Urinario / Glaucoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant / Male Idioma: En Año: 2022 Tipo del documento: Article