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Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Lahrouchi, Najim; George, Aman; Ratbi, Ilham; Schneider, Ronen; Elalaoui, Siham C; Moosa, Shahida; Bharti, Sanita; Sharma, Ruchi; Abu-Asab, Mones; Onojafe, Felix; Adadi, Najlae; Lodder, Elisabeth M; Laarabi, Fatima-Zahra; Lamsyah, Yassine; Elorch, Hamza; Chebbar, Imane; Postma, Alex V; Lougaris, Vassilios; Plebani, Alessandro; Altmueller, Janine; Kyrieleis, Henriette; Meiner, Vardiella; McNeill, Helen; Bharti, Kapil; Lyonnet, Stanislas; Wollnik, Bernd; Henrion-Caude, Alexandra; Berraho, Amina; Hildebrandt, Friedhelm; Bezzina, Connie R; Brooks, Brian P; Sefiani, Abdelaziz.
Afiliação
  • Lahrouchi N; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Meibergdreef 9, Amsterdam, 1105AZ, The Netherlands.
  • George A; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD, 20892, USA.
  • Ratbi I; Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco.
  • Schneider R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
  • Elalaoui SC; Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco.
  • Moosa S; Institute of Human Genetics, University Medical Center Goettingen, 37073, Goettingen, Germany.
  • Bharti S; Boston Children's Hospital and Harvard Medical School, Boston, MA, 02215, USA.
  • Sharma R; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD, 20892, USA.
  • Abu-Asab M; Unit on Ocular & Stem Cell Translational Research, National Eye Institute, NIH, Bethesda, MD, 20892, USA.
  • Onojafe F; Unit on Ocular & Stem Cell Translational Research, National Eye Institute, NIH, Bethesda, MD, 20892, USA.
  • Adadi N; Section of Histopathology, National Eye Institute, NIH, Bethesda, MD, 20892, USA.
  • Lodder EM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD, 20892, USA.
  • Laarabi FZ; Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco.
  • Lamsyah Y; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Meibergdreef 9, Amsterdam, 1105AZ, The Netherlands.
  • Elorch H; Département de génétique médicale, Institut National d'Hygiène, BP 769 Agdal, 10090, Rabat, Morocco.
  • Chebbar I; Service d'Ophtalmologie B, Hôpital des Spécialités, CHU Rabat, Faculté de médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco.
  • Postma AV; Service d'Ophtalmologie B, Hôpital des Spécialités, CHU Rabat, Faculté de médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco.
  • Lougaris V; Service d'Ophtalmologie B, Hôpital des Spécialités, CHU Rabat, Faculté de médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco.
  • Plebani A; Amsterdam UMC, University of Amsterdam, Department of Anatomy, Embryology & Physiology, Amsterdam Cardiovascular Sciences, Meibergdreef 9, Amsterdam, The Netherlands.
  • Altmueller J; Pediatrics Clinic and Institute for Molecular Medicine "A. Nocivelli", Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili of Brescia, 25123, Brescia, Italy.
  • Kyrieleis H; Pediatrics Clinic and Institute for Molecular Medicine "A. Nocivelli", Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili of Brescia, 25123, Brescia, Italy.
  • Meiner V; Cologne Center for Genomics University of Cologne, 50931, Cologne, Germany.
  • McNeill H; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, 50931, Germany.
  • Bharti K; Institute of Human Genetics, University of Cologne, 50931, Cologne, Germany.
  • Lyonnet S; Department of Pediatrics, Bethanien Hospital, Cologne, 42699, Germany.
  • Wollnik B; Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, 91120, Israel.
  • Henrion-Caude A; Department of Developmental Biology, Washington University School of Medicine, St. Louis, 63110, MO, USA.
  • Berraho A; Unit on Ocular & Stem Cell Translational Research, National Eye Institute, NIH, Bethesda, MD, 20892, USA.
  • Hildebrandt F; Laboratory of embryology and genetics of human malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, 75015, France.
  • Bezzina CR; Institute of Human Genetics, University Medical Center Goettingen, 37073, Goettingen, Germany.
  • Brooks BP; INSERM UMR-781, Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (APHP), Paris, 75015, France.
  • Sefiani A; Service d'Ophtalmologie B, Hôpital des Spécialités, CHU Rabat, Faculté de médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco.
Nat Commun ; 10(1): 1180, 2019 03 12.
Article em En | MEDLINE | ID: mdl-30862798
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Blefaroptose / Caderinas / Coloboma / Microftalmia / Sindactilia / Organogênese / Nefropatias Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Blefaroptose / Caderinas / Coloboma / Microftalmia / Sindactilia / Organogênese / Nefropatias Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido