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Clinical and molecular spectra of BRAF-associated RASopathy.
Lee, Yena; Choi, Yunha; Seo, Go Hun; Kim, Gu-Hwan; Choi, In Hee; Keum, Changwon; Ko, Jung Min; Cheon, Chong Kun; Jeon, Jihyun; Choi, Jin-Ho; Yoo, Han-Wook; Lee, Beom Hee.
Afiliación
  • Lee Y; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
  • Choi Y; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
  • Seo GH; 3billion Inc., Seoul, South Korea.
  • Kim GH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
  • Choi IH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
  • Keum C; 3billion Inc., Seoul, South Korea.
  • Ko JM; Department of Pediatrics, Seoul National University College of Medicine, Seoul, South Korea.
  • Cheon CK; Department of Pediatrics, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea.
  • Jeon J; Department of Pediatrics, CHA Gangnam Medical Center, CHA University School of Medicine, Seoul, South Korea.
  • Choi JH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
  • Yoo HW; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
  • Lee BH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
J Hum Genet ; 66(4): 389-399, 2021 Apr.
Article en En | MEDLINE | ID: mdl-33040082
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Proteínas Proto-Oncogénicas B-raf / Insuficiencia de Crecimiento / Cardiopatías Congénitas / Mutación / Síndrome de Noonan Tipo de estudio: Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Corea del Sur
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Proteínas Proto-Oncogénicas B-raf / Insuficiencia de Crecimiento / Cardiopatías Congénitas / Mutación / Síndrome de Noonan Tipo de estudio: Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Corea del Sur