Xeroderma pigmentosa: Three new cases with an in depth review of the genetic and clinical characteristics of the disease

Fetal and Pediatric Pathology

Volumn 34, Issue 2, 2015, Pages 120-127

  Karass, Michael ^a   Naguib, Mina M ^a   Elawabdeh, Nancy ^a   Cundiff, Caitlin A ^a   Thomason, Jenna ^a   Steelman, Charlotte Katherine ^a   Cone, Ryan ^a   Schwenkter, Ann ^a   Jordan, Caroline ^a   Shehata, Bahig M ^b  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN'S HEALTHCARE OF ATLANTA   (United States)

Author keywords

Autosomal recessive; Nucleotide excision repair; Xeroderma pigmentosum

Indexed keywords

ACTINIC KERATOSIS; AFRICAN AMERICAN; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BASAL CELL CARCINOMA; BRAIN ATROPHY; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE COURSE; FAMILIAL DISEASE; FEMALE; GENETIC DISORDER; HEARING IMPAIRMENT; HUMAN; HYPERREFLEXIA; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPOROSIS; PNEUMONIA; PONTINE GLIOMA; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE; SCHOOL CHILD; SEPSIS; SPEECH DISORDER; SQUAMOUS CELL CARCINOMA; SUN EXPOSURE; XERODERMA PIGMENTOSUM; BRAIN; DNA DAMAGE; DNA REPAIR; GENETICS; MUTATION; PATHOLOGY; PHYSIOLOGY;

BRAIN; CHILD; CHILD, PRESCHOOL; DNA DAMAGE; DNA REPAIR; FEMALE; HUMANS; MUTATION; XERODERMA PIGMENTOSUM;

EID: 84929990656     PISSN: 15513815     EISSN: 15513823     Source Type: Journal    
DOI: 10.3109/15513815.2014.982336     Document Type: Article

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