Article ID Journal Published Year Pages File Type
5904990 European Journal of Medical Genetics 2012 4 Pages PDF
Abstract
► We report a girl with Feingold syndrome and a 4.4-Mb deletion in 2p24.3 → p24.2. ► Phenotype includes hearing loss, microcephaly, facial dysmorphisms and digit defects. ► Genotype includes a microdeletion encompassing FAM84A, NBAS, DDX1, MYCNOS and MYCN. ► Haploinsufficiency of MYCN is responsible for Feingold syndrome. ► Hearing loss, microcephaly and digit defects should suggest Feingold syndrome.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
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