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A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B.
Jang, Joowon; Im, Hara; Lee, Hyesu; Sung, Hobin; Cho, Sung Im; Lee, Jee-Soo; Ko, Jung Min; Seong, Moon-Woo.
Afiliación
  • Jang J; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Im H; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Lee H; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Sung H; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Cho SI; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Lee JS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Ko JM; Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.
  • Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Ann Lab Med ; 44(6): 625-627, 2024 Nov 01.
Article en En | MEDLINE | ID: mdl-39038913
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Linaje / Factores de Transcripción / Proteínas con Homeodominio LIM / Síndrome de la Uña-Rótula Límite: Adult / Female / Humans / Male Idioma: En Revista: Ann Lab Med Año: 2024 Tipo del documento: Article Pais de publicación:
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Linaje / Factores de Transcripción / Proteínas con Homeodominio LIM / Síndrome de la Uña-Rótula Límite: Adult / Female / Humans / Male Idioma: En Revista: Ann Lab Med Año: 2024 Tipo del documento: Article Pais de publicación: