Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia

Autor: C. Zazo Seco, Nicola K. Ragge, Fabiola Ceroni, Patrick Calvas, Julie Plaisancié, Richard J. Holt, Nicolas Chassaing

Publikováno v: Human Genetics
Human Genetics, 2019, 138 (8-9), pp.799-830. ⟨10.1007/s00439-019-01977-y⟩
Human Genetics, Springer Verlag, 2019, 138 (8-9), pp.799-830. ⟨10.1007/s00439-019-01977-y⟩

International audience; Eye formation is the result of coordinated induction and differentiation processes during embryogenesis. Disruption of any one of these events has the potential to cause ocular growth and structural defects, such as anophthalm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd61fde53476591cd2e554b685aca871
https://doi.org/10.1007/s00439-019-01977-y

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A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

Autor: Zazo Seco C; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Castells-Nobau A; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Joo SH; Department of Cellular Neurobiology, University of Göttingen, Göttingen 37077, Germany., Schraders M; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Foo JN; Human Genetics, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore 138672, Singapore., van der Voet M; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Velan SS; Laboratory of Molecular Imaging, Singapore Bioimaging Consortium, A*STAR, Clinical Imaging Research Centre, NUS-A*STAR, Singapore 138667, Singapore.; Singapore Institute for Clinical Sciences, A*STAR, Clinical Imaging Research Centre, NUS-A*STAR, Singapore 117609, Singapore., Nijhof B; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Oostrik J; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., de Vrieze E; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Katana R; Department of Cellular Neurobiology, University of Göttingen, Göttingen 37077, Germany., Mansoor A; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan., Huynen M; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Szklarczyk R; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Oti M; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Department of Molecular Developmental Biology, Radboud University, Nijmegen 6525GA, The Netherlands., Tranebjærg L; Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine (ICMM), The Panum Institute, University of Copenhagen, Copenhagen 2200, Denmark.; Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Bispebjerg Hospital/Rigshospitalet, Copenhagen 2400, Denmark.; Clinical Genetic Clinic, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup 2600, Denmark., van Wijk E; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Scheffer-de Gooyert JM; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Siddique S; National Institute of Rehabilitation Medicine (NIRM), Islamabad 44000, Pakistan., Baets J; Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp 2610, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp 2000, Belgium.; Laboratories of Neurogenetics and Neuropathology, Institute Born-Bunge, University of Antwerp, Antwerp 2000, Belgium., de Jonghe P; Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp 2610, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp 2000, Belgium.; Laboratories of Neurogenetics and Neuropathology, Institute Born-Bunge, University of Antwerp, Antwerp 2000, Belgium., Kazmi SA; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan., Sadananthan SA; Laboratory of Molecular Imaging, Singapore Bioimaging Consortium, A*STAR, Clinical Imaging Research Centre, NUS-A*STAR, Singapore 138667, Singapore.; Singapore Institute for Clinical Sciences, A*STAR, Clinical Imaging Research Centre, NUS-A*STAR, Singapore 117609, Singapore., van de Warrenburg BP; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Khor CC; Human Genetics, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore 138672, Singapore.; Singapore Eye Research Institute, Singapore 168751, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 168751, Singapore., Göpfert MC; Department of Cellular Neurobiology, University of Göttingen, Göttingen 37077, Germany., Qamar R; COMSATS Institute of Information Technology, Islamabad 45550, Pakistan.; Al-Nafees Medical College & Hospital, Isra University, Islamabad 45600, Pakistan., Schenck A; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Kremer H; Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525GA, The Netherlands., Siddiqi S; Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan.

Publikováno v: Disease models & mechanisms [Dis Model Mech] 2017 Feb 01; Vol. 10 (2), pp. 105-118. Date of Electronic Publication: 2016 Dec 15.