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Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report.
Song, Uisook; Ryu, Young Hye; Hong, Kiteak; Shim, So-Yeon; Park, Seongyeol; Lee, Jeong Seok; Ju, Young Seok; Shin, Seung Han; Lee, Soyoung.
Affiliation
  • Song U; Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
  • Ryu YH; Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
  • Hong K; Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
  • Shim SY; Department of Pediatrics, College of Medicine, Ewha Womans University, Seoul, Republic of Korea.
  • Park S; GENOME INSIGHT Inc., Daejeon, Republic of Korea.
  • Lee JS; GENOME INSIGHT Inc., Daejeon, Republic of Korea.
  • Ju YS; GENOME INSIGHT Inc., Daejeon, Republic of Korea.
  • Shin SH; Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology, Daejeon, Republic of Korea.
  • Lee S; Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea. revival421@empas.com.
BMC Pediatr ; 21(1): 453, 2021 10 16.
Article in En | MEDLINE | ID: mdl-34654403
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein C Deficiency Type of study: Diagnostic_studies / Screening_studies Limits: Humans / Male / Newborn Language: En Journal: BMC Pediatr Year: 2021 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein C Deficiency Type of study: Diagnostic_studies / Screening_studies Limits: Humans / Male / Newborn Language: En Journal: BMC Pediatr Year: 2021 Document type: Article