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Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.
Tooze, Rebecca S; Calpena, Eduardo; Twigg, Stephen R F; D'Arco, Felice; Wakeling, Emma L; Wilkie, Andrew O M.
Afiliación
  • Tooze RS; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Twigg SRF; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • D'Arco F; Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Wakeling EL; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK andrew.wilkie@imm.ox.ac.uk.
J Med Genet ; 60(7): 712-716, 2023 07.
Article en En | MEDLINE | ID: mdl-36543535
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Sistema Urinario / Craneosinostosis / Oído Interno Límite: Animals / Child / Humans Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Sistema Urinario / Craneosinostosis / Oído Interno Límite: Animals / Child / Humans Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido