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. |
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| 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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