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Acta Neuropathologica, ISSN 0001-6322, 12/2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article
Neurology, ISSN 0028-3878, 08/2016, Volume 87, Issue 6, pp. e56 - e57
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2016, Volume 11, Issue 1, p. 26
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2019, p. 103612
Background: Cockayne Syndrome (CS) is a rare autosomal recessive multi-systemic disorder, characterized; by developmental delay, microcephaly, severe growth... 
Hypertension | Cockayne syndrome | Hyperuricemia | Nephrotic syndrome | Proteinuria
Journal Article
Neurology, ISSN 0028-3878, 08/2016, Volume 87, Issue 6, pp. e56 - e57
A 2-year-old girl presented with growth failure, photosensitive rash, and developmental delay since infancy. On examination, she had a progeroid appearance,... 
COCKAYNE-SYNDROME | CLINICAL NEUROLOGY | Cockayne Syndrome - pathology | Child, Preschool | Female | Cockayne Syndrome - diagnosis | Humans
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 03/2009, Volume 360, Issue 12, p. 1211
  Cytogenetic studies of the parents of a girl with the DiGeorge (or velocardiofacial) syndrome, who carried a deletion at 22q11.2, revealed an unexpected... 
Journal Article