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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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Bibliographic Details
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
Description
ISSN:1878-0849
DOI:10.1016/j.ejmg.2019.103691