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Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.
Spielmann, Malte; Marx, Sylvie; Barbi, Gotthold; Flöttmann, Ricarda; Kehrer-Sawatzki, Hildegard; König, Rainer; Horn, Denise; Mundlos, Stefan; Nader, Sean; Borck, Guntram.
Affiliation
  • Spielmann M; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Marx S; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Barbi G; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Berlin, Germany.
  • Flöttmann R; Department of Pediatric Orthopedics, Schön Klinik Vogtareuth, Vogtareuth, Germany.
  • Kehrer-Sawatzki H; Institute of Human Genetics, University of Ulm, Ulm, Germany.
  • König R; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Horn D; Institute of Human Genetics, University of Ulm, Ulm, Germany.
  • Mundlos S; Institute of Human Genetics, University of Frankfurt, Frankfurt/Main, Germany.
  • Nader S; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Borck G; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Am J Med Genet A ; 170A(5): 1202-7, 2016 May.
Article in En | MEDLINE | ID: mdl-26822876
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pierre Robin Syndrome / Abnormalities, Multiple / Chromosomes, Human, Pair 2 / Femur / Brachydactyly Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Female / Humans / Pregnancy Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Germany
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pierre Robin Syndrome / Abnormalities, Multiple / Chromosomes, Human, Pair 2 / Femur / Brachydactyly Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Female / Humans / Pregnancy Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Germany