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Multi-locus pathogenic variation identified in a patient with craniosynostosis.
Yoon, Jihoon G; Yu, Jung Woo; Shim, Kyu Won; Kim, Yong Oock; Lee, Min Goo.
Afiliación
  • Yoon JG; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
  • Yu JW; Department of Pharmacology, Yonsei University College of Medicine, Seoul, Republic of Korea.
  • Shim KW; Department of Pharmacology, Yonsei University College of Medicine, Seoul, Republic of Korea.
  • Kim YO; Department of Pediatric Neurosurgery, Craniofacial Reforming and Reconstruction Clinic, Yonsei University College of Medicine, Seoul, Republic of Korea.
  • Lee MG; Department of Plastic and Reconstructive Surgery, Institute for Human Tissue Restoration, Yonsei University College of Medicine, Seoul, Republic of Korea.
Am J Med Genet A ; 194(5): e63521, 2024 05.
Article en En | MEDLINE | ID: mdl-38126082
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Craneosinostosis Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article
Texto completo
Imprimir
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Craneosinostosis Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article