title: Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.
authors.affiliation: DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors.forename: Xiaolong
authors.initials: X
authors.lastname: Zhou
authors.forename: Sikandar G
authors.initials: SG
authors.lastname: Khan
authors.forename: Deborah
authors.initials: D
authors.lastname: Tamura
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Patronas
authors.forename: Wadih M
authors.initials: WM
authors.lastname: Zein
authors.forename: Brian P
authors.initials: BP
authors.lastname: Brooks
authors.forename: Kenneth H
authors.initials: KH
authors.lastname: Kraemer
authors.forename: John J
authors.initials: JJ
authors.lastname: DiGiovanna
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D019943:Amino Acid Substitution; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D005260:Female; D006201:Hair Diseases / Q000235:genetics / Q000473:pathology; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009422:Nervous System Diseases / Q000235:genetics / Q000473:pathology; D010787:Photosensitivity Disorders / Q000235:genetics / Q000473:pathology; D054463:Trichothiodystrophy Syndromes / Q000235:genetics / Q000473:pathology*; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics
chemical_list: D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human