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Novel large deletion involving EVC and EVC2 in Ellis-van Creveld syndrome.
Sato, Hiroki; Suga, Kenichi; Suzue, Masashi; Honma, Yukako; Hayabuchi, Yasunobu; Miyai, Shunsuke; Kurahashi, Hiroki; Nakagawa, Ryuji.
Affiliation
  • Sato H; Department of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.
  • Suga K; Department of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan. suga.kenichi.1@tokushima-u.ac.jp.
  • Suzue M; Department of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.
  • Honma Y; Department of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.
  • Hayabuchi Y; Department of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.
  • Miyai S; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
  • Kurahashi H; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
  • Nakagawa R; Department of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan.
Hum Genome Var ; 9(1): 15, 2022 May 17.
Article in En | MEDLINE | ID: mdl-35581188
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Hum Genome Var Year: 2022 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Hum Genome Var Year: 2022 Document type: Article Affiliation country: Country of publication: