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A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.
Ansari, Morad; Rainger, Jacqueline K; Murray, Jennie E; Hanson, Isabel; Firth, Helen V; Mehendale, Felicity; Amiel, Jeanne; Gordon, Christopher T; Percesepe, Antonio; Mazzanti, Laura; Fryer, Alan; Ferrari, Paola; Devriendt, Koenraad; Temple, I Karen; FitzPatrick, David R.
Affiliation
  • Ansari M; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Rainger JK; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Murray JE; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; Southeast Scotland Clinical Genetics Services, Western General Hospital, Edinburgh EH4 2XU, UK.
  • Hanson I; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.
  • Firth HV; DECIPHER, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
  • Mehendale F; Cleft Lip and Palate Service, Royal Hospital for Sick Children, Edinburgh EH9 1LF, UK.
  • Amiel J; INSERM U-1163 Institut Imagine, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, APHP, Paris, France.
  • Gordon CT; INSERM U-1163 Institut Imagine, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, APHP, Paris, France.
  • Percesepe A; Departments of Medical Genetics and Pediatrics, University Hospital of Modena, Italy.
  • Mazzanti L; Department of Pediatrics, University of Bologna, Italy.
  • Fryer A; Department of Clinical Genetics, Alder Hey Children's Hospital, Liverpool L12 2AP, UK.
  • Ferrari P; Departments of Medical Genetics and Pediatrics, University Hospital of Modena, Italy.
  • Devriendt K; Centre for Human Genetics, University of Leuven, Belgium.
  • Temple IK; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton and Wessex Clinical Genetics Service, University Hospital NHS Trust, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK.
  • FitzPatrick DR; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; Southeast Scotland Clinical Genetics Services, Western General Hospital, Edinburgh EH4 2XU, UK. Electronic address: david.fitzpatrick@igmm.ed.ac.uk.
Eur J Med Genet ; 57(10): 587-95, 2014 Oct.
Article in En | MEDLINE | ID: mdl-25195018
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphoproteins / Pierre Robin Syndrome / Chromosomes, Human, Pair 5 / Sequence Deletion / Gene Deletion / Nucleocytoplasmic Transport Proteins / Microfilament Proteins Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2014 Type: Article Affiliation country: United kingdom
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphoproteins / Pierre Robin Syndrome / Chromosomes, Human, Pair 5 / Sequence Deletion / Gene Deletion / Nucleocytoplasmic Transport Proteins / Microfilament Proteins Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2014 Type: Article Affiliation country: United kingdom