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Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.
Kuchinskaya, Ekaterina; Grigelioniene, Giedre; Hammarsjö, Anna; Lee, Hye-Ran; Högberg, Lotta; Grigelionis, Gintautas; Kim, Ok-Hwa; Nishimura, Gen; Cho, Tae-Joon.
Affiliation
  • Kuchinskaya E; Department of Clinical Pathology and Clinical Genetics, and Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.
  • Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. Giedre.Grigelioniene@ki.se.
  • Hammarsjö A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Giedre.Grigelioniene@ki.se.
  • Lee HR; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Högberg L; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Grigelionis G; Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, Republic of Korea.
  • Kim OH; Department of Paediatrics and Department of Clinical and Experimental Medicine, Linköping University, Norrköping, Sweden.
  • Nishimura G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Cho TJ; Department of Radiology, Woorisoa Children's Hospital, Seoul, Republic of Korea.
Orphanet J Rare Dis ; 11: 1, 2016 Jan 04.
Article in En | MEDLINE | ID: mdl-26728142
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Full text: 1 Database: MEDLINE Main subject: Ribs / Spine / Carrier Proteins / Craniofacial Abnormalities / Dysostoses Limits: Adult / Child, preschool / Female / Humans / Male Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2016 Type: Article Affiliation country: Sweden
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Full text: 1 Database: MEDLINE Main subject: Ribs / Spine / Carrier Proteins / Craniofacial Abnormalities / Dysostoses Limits: Adult / Child, preschool / Female / Humans / Male Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2016 Type: Article Affiliation country: Sweden