Your browser doesn't support javascript.
loading
Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.
Nguyen, Tran Quynh Nhu; Saitoh, Makiko; Trinh, Huu Tung; Doan, Nguyen Minh Thien; Mizuno, Yoko; Seki, Masafumi; Sato, Yusuke; Ogawa, Seishi; Mizuguchi, Masashi.
Affiliation
  • Nguyen TQ; Department of Developmental Medical Sciences, School of International Health, Graduate School of Medicine, The University of Tokyo, Kyoto, Japan.
  • Saitoh M; Children's Hospital 2, Ho Chi Minh City, Vietnam.
  • Trinh HT; Department of Developmental Medical Sciences, School of International Health, Graduate School of Medicine, The University of Tokyo, Kyoto, Japan.
  • Doan NM; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Kyoto, Japan.
  • Mizuno Y; Children's Hospital 2, Ho Chi Minh City, Vietnam.
  • Seki M; Department of General Internal Medicine, University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam.
  • Sato Y; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Kyoto, Japan.
  • Ogawa S; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Kyoto, Japan.
  • Mizuguchi M; Department of Pathology and tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Congenit Anom (Kyoto) ; 56(5): 209-16, 2016 Sep.
Article in En | MEDLINE | ID: mdl-26748586
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Calcium-Binding Proteins / Ellis-Van Creveld Syndrome / Proteins / Sequence Deletion / Mutation, Missense Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Congenit Anom (Kyoto) Journal subject: TERATOLOGIA Year: 2016 Document type: Article Affiliation country: Japan Country of publication: Australia
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Calcium-Binding Proteins / Ellis-Van Creveld Syndrome / Proteins / Sequence Deletion / Mutation, Missense Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Congenit Anom (Kyoto) Journal subject: TERATOLOGIA Year: 2016 Document type: Article Affiliation country: Japan Country of publication: Australia