In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.

Autor: Weiss K; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Guillen Sacoto MJ; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Hadley DW; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Hadsall CK; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Stokes B; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Hu P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Roessler E; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Solomon B; Speech and Language Pathology Section, Department of Rehabilitation Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA., Wiggs E; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Thurm A; Pediatrics and Developmental Neuroscience Branch, National Institute of Mental Health, Bethesda, Maryland, USA., Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA., Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA., Hahn JS; Stanford University School of Medicine and Lucile Packard Children's Hospital, Stanford, California, USA., Stashinko E; Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA., Levey E; Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA., Baldwin D; Department of Neurology, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA., Clegg NJ; Department of Neurology, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA., Delgado MR; Department of Neurology, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA.; Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas, USA., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Jan; Vol. 20 (1), pp. 14-23. Date of Electronic Publication: 2017 Jun 22.