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Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Gerber, Céline B; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; Haug, Marte; Hayes, Ian; Marin-Reina, Purificacion; Mark, Paul R; Martinez-Castellano, Francisco; Maystadt, Isabelle; Karadurmus, Deniz; Steindl, Katharina; Wiesener, Antje; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane.
Affiliation
  • Gerber CB; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
  • Fliedner A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Bartsch O; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
  • Berland S; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
  • Dewenter M; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
  • Haug M; Department of Medical Genetics, St. Olav's University Hospital, Trondheim, Norway.
  • Hayes I; Genetic Health Service New Zealand, Auckland Hospital, Auckland, New Zealand.
  • Marin-Reina P; Genetics Unit/Department of Pediatrics and Medical Genetics, University and Polytechnic Hospital La Fe, Valencia, Spain.
  • Mark PR; Spectrum Health, Division of Medical and Molecular Genetics, Grand Rapids, Michigan, USA.
  • Martinez-Castellano F; Genetics Unit/Department of Pediatrics and Medical Genetics, University and Polytechnic Hospital La Fe, Valencia, Spain.
  • Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
  • Karadurmus D; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.
  • Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Wiesener A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Zweier M; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Clin Genet ; 102(3): 182-190, 2022 09.
Article in En | MEDLINE | ID: mdl-35662002
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Mental Retardation, X-Linked / Hypogonadism / Intellectual Disability / Musculoskeletal Abnormalities Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Clin Genet Year: 2022 Document type: Article Affiliation country: Suiza Country of publication: Dinamarca
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Mental Retardation, X-Linked / Hypogonadism / Intellectual Disability / Musculoskeletal Abnormalities Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Clin Genet Year: 2022 Document type: Article Affiliation country: Suiza Country of publication: Dinamarca