Jingyin Yue Huimei Lu Shijie Lan Jingmei Liu Mark N Stein Bruce G Haffty Zhiyuan Shen
10.1371/journal.pone.0054389
PLoS One
2013;8(1):e54389.
CC BY
https://pubmed.ncbi.nlm.nih.gov/23372718/
DNA Breaks, Double-Stranded DNA Ligases / genetics DNA Repair Eczema / genetics Growth Disorders / genetics Intellectual Disability / genetics Microcephaly / genetics Mutation
DNA Breaks, Double-Stranded DNA Ligases / genetics DNA Repair Eczema / genetics Growth Disorders / genetics Intellectual Disability / genetics Microcephaly / genetics Mutation Case Reports Research Support, N.I.H., Extramural Adult Antineoplastic Agents / pharmacology DNA Damage DNA Ligase ATP Eczema / pathology Eczema / radiotherapy Facies Fatal Outcome Female Fibroblasts / drug effects Fibroblasts / metabolism Fibroblasts / pathology Fibroblasts / radiation effects Gamma Rays Growth Disorders / pathology Growth Disorders / radiotherapy Humans Intellectual Disability / pathology Intellectual Disability / radiotherapy Microcephaly / pathology Microcephaly / radiotherapy Radiation Tolerance Antineoplastic Agents LIG4 protein, human DNA Ligases DNA Ligase ATP Dubowitz syndrome
PMC3556036
23372718
Identification of the DNA repair defects in a case of Dubowitz syndrome
2013