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Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
Braun, Frederik; Gangfuß, Andrea; Stöbe, Petra; Haack, Tobias B; Schweiger, Bernd; Roos, Andreas; Schara, Ulrike.
Affiliation
  • Braun F; Department of Neuropediatrics, Essen University Hospital, Essen, Germany.
  • Gangfuß A; Department of Neuropediatrics, Essen University Hospital, Essen, Germany.
  • Stöbe P; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
  • Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
  • Schweiger B; Centre for Rare Diseases, University of Tuebingen, Tübingen, Germany.
  • Roos A; Institute for Diagnostic and Interventional Radiology and Neuroradiology, Essen University Hospital, Essen, Germany.
  • Schara U; Department of Neuropediatrics, Essen University Hospital, Essen, Germany.
Mol Genet Genomic Med ; 9(12): e1767, 2021 12.
Article in En | MEDLINE | ID: mdl-34288564
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Full text: 1 Database: MEDLINE Main subject: Ribs / Spine / Carrier Proteins / Craniofacial Abnormalities / Genetic Predisposition to Disease / Dysostoses / Genetic Association Studies / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Infant / Newborn Language: En Journal: Mol Genet Genomic Med Year: 2021 Type: Article Affiliation country: Germany
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Ribs / Spine / Carrier Proteins / Craniofacial Abnormalities / Genetic Predisposition to Disease / Dysostoses / Genetic Association Studies / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Infant / Newborn Language: En Journal: Mol Genet Genomic Med Year: 2021 Type: Article Affiliation country: Germany