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Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.

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Title: Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.
Authors: Demeulenaere S; Center for Medical Genetics, Antwerp University Hospital, Edegem, Belgium; Dept. of Pediatrics, Antwerp University Hospital, Edegem, Belgium., Beysen D; Dept. of Pediatric Neurology, Antwerp University Hospital, Edegem, Belgium., De Veuster I; Dept. of Ophthalmology, Antwerp University Hospital, Edegem, Belgium., Reyniers E; Center for Medical Genetics, Antwerp University Hospital, Edegem, Belgium; Center for Medical Genetics, University of Antwerp, Edegem, Belgium., Kooy F; Center for Medical Genetics, Antwerp University Hospital, Edegem, Belgium; Center for Medical Genetics, University of Antwerp, Edegem, Belgium., Meuwissen M; Center for Medical Genetics, Antwerp University Hospital, Edegem, Belgium; Center for Medical Genetics, University of Antwerp, Edegem, Belgium. Electronic address: marije.meuwissen@uza.be.
Source: European journal of medical genetics [Eur J Med Genet] 2019 Aug; Vol. 62 (8), pp. 103691. Date of Electronic Publication: 2019 Jun 06.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.
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  Data: <searchLink fieldCode="AU" term="%22Demeulenaere+S%22">Demeulenaere S</searchLink>; Center for Medical Genetics, Antwerp University Hospital, Edegem, Belgium; Dept. of Pediatrics, Antwerp University Hospital, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Beysen+D%22">Beysen D</searchLink>; Dept. of Pediatric Neurology, Antwerp University Hospital, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22De+Veuster+I%22">De Veuster I</searchLink>; Dept. of Ophthalmology, Antwerp University Hospital, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Reyniers+E%22">Reyniers E</searchLink>; Center for Medical Genetics, Antwerp University Hospital, Edegem, Belgium; Center for Medical Genetics, University of Antwerp, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Kooy+F%22">Kooy F</searchLink>; Center for Medical Genetics, Antwerp University Hospital, Edegem, Belgium; Center for Medical Genetics, University of Antwerp, Edegem, Belgium.<br /><searchLink fieldCode="AU" term="%22Meuwissen+M%22">Meuwissen M</searchLink>; Center for Medical Genetics, Antwerp University Hospital, Edegem, Belgium; Center for Medical Genetics, University of Antwerp, Edegem, Belgium. Electronic address: marije.meuwissen@uza.be.
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  Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2019 Aug; Vol. 62 (8), pp. 103691. <i>Date of Electronic Publication: </i>2019 Jun 06.
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              Text: 2019 Aug
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