Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.
Zhou
Xiaolong
X
DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Khan
Sikandar G
SG
Tamura
Deborah
D
Patronas
Nicholas J
NJ
Zein
Wadih M
WM
Brooks
Brian P
BP
Kraemer
Kenneth H
KH
DiGiovanna
John J
JJ
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
D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human